Is EAF1 p.Asn6Ser (c.17A>G) pathogenic?

EAF1 p.Asn6Ser (c.17A>G) is classified Uncertain significance in EAF1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-09-25). AlphaMissense: likely benign (0.0795); Rare (popmax 0.25%, eas).

How common is EAF1 p.Asn6Ser (c.17A>G) in the general population?

EAF1 p.Asn6Ser (c.17A>G) is rare (popmax 0.25%, eas) (gnomAD).

What do computational predictors say about EAF1 p.Asn6Ser (c.17A>G)?

AlphaMissense predicts likely benign (score 0.0795) — an in-silico prediction, not a clinical call.

EAF1 p.Asn6Ser

c.17A>G · rs1041694440 · VCV3086802

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0795 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.25%, eas)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0795	likely benign
REVEL	0.274	benign-leaning
SaProt	LLR -5.46	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 11	GERP 2.1, phastCons 1
Regional constraint	o/e 0.78	unconstrained · MANE · 11 kb · p 3.8e-05 · regional, not allelic
Overall
CADD	21.1	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

Grpmax group 0.25% East Asian · 102/40,876 alleles

Filtering AF 0.21% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.196%

Overall 0.0067% 104/1,551,246 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.25%	401
Remaining individualsnot grpmax-eligible	0.00333%	30,042

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: EAF1
Protein: p.Asn6Ser
Coding: c.17A>G
MANE Select: NM_033083
dbSNP: rs1041694440
Type: single nucleotide variant
Location: chr3:15427796 (GRCh38)
Gene constraint: LOEUF 1.012 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 71.79 · 2 PDB

Full EAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

EAF1 p.Asp206= Benign ★★ same type
EAF1 p.Thr133= Benign ★★ same type
EAF1 p.Ala147Ser Uncertain significance ★ ⚠ same type
EAF1 p.Arg122Gln Uncertain significance ★ ⚠ same type
EAF1 p.Arg233Met Uncertain significance ★ ⚠ same type
EAF1 p.Arg233Thr Uncertain significance ★ ⚠ same type
EAF1 p.Arg27Gln Uncertain significance ★ ⚠ same type
EAF1 p.Asn216Ser 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/eaf1-p-asn6ser (accessed [today's date]).

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