EPS8L3 p.Asp481=
c.1443C>T · rs34301364 · VCV711967
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.26%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 3.7, phastCons 1 |
| Overall | ||
| CADD | 11.96 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.26%
African / African-American · 945/74,988 alleles
Filtering AF
1.19%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.17%
Overall
0.0653%
1,054/1,613,482 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.26% | 79 |
| Remaining individualsnot grpmax-eligible | 0.0752% | 1,330 |
| Admixed American | 0.0633% | 1,579 |
| Middle Eastern | 0.0501% | 1,995 |
| South Asian | 0.00769% | 13,011 |
| European (non-Finnish) | 0.00119% | 84,284 |
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
- EPS8L3
- Protein
- p.Asp481=
- Coding
- c.1443C>T
- MANE Select
- NM_133181
- dbSNP
- rs34301364
- Type
- single nucleotide variant
- Location
- chr1:109751774 (GRCh38)
- Gene constraint
- LOEUF 1.052 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.46 · 1 PDB
- Residue 481
- a β-strand; the sh3 domain
Similar variants
- EPS8L3 p.Leu453Pro Uncertain significance ★★ ⚠ same type
- EPS8L3 p.Phe318Leu Uncertain significance ★★ ⚠ same type
- EPS8L3 p.Thr36Ile Uncertain significance ★★ ⚠ same type
- EPS8L3 p.Ala181Pro Uncertain significance ★ ⚠ same type
- EPS8L3 p.Ala215Thr Uncertain significance ★ ⚠ same type
- EPS8L3 p.Ala282Val Uncertain significance ★ ⚠ same type
- EPS8L3 p.Ala8Thr Uncertain significance ★ ⚠ same type
- EPS8L3 p.Arg168Met 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/eps8l3-p-asp481 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown