MAVS p.Val359=
c.1077G>A · rs113132376 · VCV725329
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.37%, 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 0.25 | GERP -4.7 |
| Overall | ||
| CADD | 1.028 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.37%
African / African-American · 278/75,058 alleles
Filtering AF
0.335%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.321%
Overall
0.0205%
331/1,614,202 alleles · rare
exomes 185/1,461,864 · genomes 146/152,338 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.37% | 270 |
| Admixed American | 0.0433% | 2,309 |
| Remaining individualsnot grpmax-eligible | 0.032% | 3,125 |
| Middle Eastern | 0.0165% | 6,062 |
| South Asian | 0.0022% | 45,543 |
| European (non-Finnish) | 0.000339% | 295,009 |
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
- MAVS
- Protein
- p.Val359=
- Coding
- c.1077G>A
- MANE Select
- NM_020746
- dbSNP
- rs113132376
- Type
- single nucleotide variant
- Location
- chr20:3864707 (GRCh38)
- Gene constraint
- LOEUF 0.898 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 56.31 · 11 PDB
Similar variants
- MAVS c.292+6C>T Benign ★★ same type
- MAVS p.Ala497= Benign ★★ same type
- MAVS p.Gly413Ser Benign ★★ same type
- MAVS p.Gly491= Likely benign ★★ same type
- MAVS p.Pro66= Benign ★★ same type
- MAVS p.Ala264Glu Uncertain significance ★ ⚠ same type
- MAVS p.Ala356Gly Uncertain significance ★ ⚠ same type
- MAVS p.Ala74Val 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/mavs-p-val359 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown