Is APOBEC3G p.Phe282Val (c.844T>G) pathogenic?

APOBEC3G p.Phe282Val (c.844T>G) is classified Uncertain significance in APOBEC3G (ClinVar, Single submitter, 1 submitter; last evaluated 2025-04-10). AlphaMissense: likely pathogenic (0.7634); Very rare (popmax 0.005%, amr).

How common is APOBEC3G p.Phe282Val (c.844T>G) in the general population?

APOBEC3G p.Phe282Val (c.844T>G) is very rare (popmax 0.005%, amr) (gnomAD).

What do computational predictors say about APOBEC3G p.Phe282Val (c.844T>G)?

AlphaMissense predicts likely pathogenic (score 0.7634) — an in-silico prediction, not a clinical call.

APOBEC3G p.Phe282Val

c.844T>G · rs918473281 · VCV2363118

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.7634 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.005%, amr)

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.7634	likely pathogenic · top 9% in APOBEC3G
REVEL	0.285	benign-leaning
SaProt	LLR -13.02	damaging
⇒ AlphaMissense and SaProt call this damaging; REVEL does not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.9	GERP 1.7, phastCons 0.33
Regional constraint	o/e 0.95	unconstrained · MANE · 10 kb · p 0.3 · regional, not allelic
Overall
CADD	22.6	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.005% Admixed American · 3/60,004 alleles

Filtering AF 0.00133% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000668%

Overall 0.000372% 6/1,614,096 alleles · very rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.005%	20,001
Remaining individualsnot grpmax-eligible	0.0032%	31,243
African / African-American	0.00133%	74,936

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: APOBEC3G
Protein: p.Phe282Val
Coding: c.844T>G
MANE Select: NM_021822
dbSNP: rs918473281
Type: single nucleotide variant
Location: chr22:39086387 (GRCh38)
Gene constraint: LOEUF 1.103 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.57 · 22 PDB
Residue 282: a β-strand; the cmp/dcmp-type deaminase 2 domain; the 'necessary for homooligomerization' region

Full APOBEC3G gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

APOBEC3G p.Ala134Val Uncertain significance ★ ⚠ same type
APOBEC3G p.Ala312Val Uncertain significance ★ ⚠ same type
APOBEC3G p.Ala333Asp Uncertain significance ★ ⚠ same type
APOBEC3G p.Arg122Cys Uncertain significance ★ ⚠ same type
APOBEC3G p.Arg136Cys Uncertain significance ★ ⚠ same type
APOBEC3G p.Arg30Trp Uncertain significance ★ ⚠ same type
APOBEC3G p.Arg313His Uncertain significance ★ ⚠ same type
APOBEC3G p.Arg326Cys Uncertain significance ★ ⚠ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/apobec3g-p-phe282val (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown