PUS7 p.Val385=
c.1155C>A · rs137934853 · VCV715610
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.218%, 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 0.79 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 4.998 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.218%
African / African-American · 163/74,918 alleles
Filtering AF
0.19%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.18%
Overall
0.012%
194/1,611,458 alleles · rare
exomes 81/1,459,174 · genomes 113/152,284 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.218% | 460 |
| Middle Eastern | 0.033% | 3,029 |
| Remaining individualsnot grpmax-eligible | 0.032% | 3,121 |
| Admixed American | 0.0134% | 7,464 |
| South Asian | 0.00111% | 90,458 |
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
- PUS7
- Protein
- p.Val385=
- Coding
- c.1155C>A
- MANE Select
- NM_019042
- dbSNP
- rs137934853
- Type
- single nucleotide variant
- Location
- chr7:105481072 (GRCh38)
- Gene constraint
- LOEUF 0.727 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.67 · 1 PDB
- Residue 385
- the trud domain
Similar variants
- PUS7 p.Val385Ile Uncertain significance ★ ⚠ same residue
- PUS7 c.1399-1G>C Pathogenic/Likely pathogenic ★★ same type
- PUS7 p.Asp503Tyr Pathogenic/Likely pathogenic ★★ same type
- PUS7 p.Arg661His Uncertain significance ★★ ⚠ same type
- PUS7 p.Met104Val Uncertain significance ★★ ⚠ same type
- PUS7 p.Ser135Ala Uncertain significance ★★ ⚠ same type
- PUS7 p.Thr269Ala Uncertain significance ★★ ⚠ same type
- PUS7 c.585+43G>C 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/pus7-p-val385 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown