SASH1 p.Val77=
c.231G>A · rs369830961 · VCV738412
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.23%, mid)
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 1.3 | GERP -0.84, phastCons 1 |
| Overall | ||
| CADD | 7.513 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.23%
Middle Eastern · 13/5,664 alleles
Filtering AF
0.137%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.129%
Overall
0.0273%
441/1,613,306 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.23% | 436 |
| South Asian | 0.158% | 632 |
| Admixed American | 0.0583% | 1,714 |
| Remaining individualsnot grpmax-eligible | 0.0417% | 2,401 |
| European (non-Finnish) | 0.0186% | 5,387 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0135% | 7,401 |
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
- SASH1
- Protein
- p.Val77=
- Coding
- c.231G>A
- MANE Select
- NM_015278
- dbSNP
- rs369830961
- Type
- single nucleotide variant
- Location
- chr6:148390208 (GRCh38)
- Gene constraint
- LOEUF 0.412 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.90 · 2 PDB
Similar variants
- SASH1 p.Val77Leu Uncertain significance ★ ⚠ same residue
- SASH1 p.Arg811Gln Uncertain significance ★★ ⚠ same type
- SASH1 p.Lys134Ile Uncertain significance ★★ ⚠ same type
- SASH1 p.Pro984Leu Uncertain significance ★★ same type
- SASH1 p.Thr460Met Uncertain significance ★★ ⚠ same type
- SASH1 c.337-38G>C Benign ★★ same type
- SASH1 p.Arg1089Gln Benign/Likely benign ★★ same type
- SASH1 p.Arg820Gln Benign/Likely benign ★★ 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/sash1-p-val77 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown