Is APOBEC3F p.Pro350Arg (c.1049C>G) pathogenic?

APOBEC3F p.Pro350Arg (c.1049C>G) is classified Uncertain significance in APOBEC3F (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-15). AlphaMissense: likely benign (0.1191); Absent from gnomAD v4.1.

How common is APOBEC3F p.Pro350Arg (c.1049C>G) in the general population?

APOBEC3F p.Pro350Arg (c.1049C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about APOBEC3F p.Pro350Arg (c.1049C>G)?

AlphaMissense predicts likely benign (score 0.1191) — an in-silico prediction, not a clinical call.

APOBEC3F p.Pro350Arg

c.1049C>G · VCV4834993

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1191 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1191	likely benign
REVEL	0.112	moderately benign-leaning
SaProt	LLR -9.74	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -8.5	GERP -3.2
Regional constraint	o/e 0.97	unconstrained · MANE · 12 kb · p 0.49 · regional, not allelic
Overall
CADD	0.47	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

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

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: APOBEC3F
Protein: p.Pro350Arg
Coding: c.1049C>G
MANE Select: NM_145298
Type: single nucleotide variant
Location: chr22:39052622 (GRCh38)
Gene constraint: LOEUF 1.014 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 89.31 · 10 PDB
Residue 350: an α-helix

Full APOBEC3F gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

APOBEC3F p.Asn346Ser Benign/Likely benign ★★ same type
APOBEC3F p.Glu151Asp Likely benign ★★ same type
APOBEC3F p.Glu373Lys Likely benign ★★ same type
APOBEC3F p.Pro191= Benign ★★ same type
APOBEC3F p.Tyr307Cys Benign ★★ ⚠ same type
APOBEC3F c.196G>C Uncertain significance ★ ⚠ same type
APOBEC3F p.Arg128Lys Uncertain significance ★ ⚠ same type
APOBEC3F p.Arg143His 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/apobec3f-p-pro350arg (accessed [today's date]).

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