PRORP p.Val157=
c.471G>A · VCV3905087
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.582%, 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 0.33 | GERP -2, phastCons 0.97 |
| Overall | ||
| CADD | 6.617 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.582%
African / African-American · 437/75,028 alleles
Filtering AF
0.537%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.52%
Overall
0.0372%
600/1,614,174 alleles · rare
exomes 364/1,461,882 · genomes 236/152,292 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.582% | 172 |
| Middle Eastern | 0.165% | 606 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0777% | 1,287 |
| Remaining individualsnot grpmax-eligible | 0.0592% | 1,689 |
| Admixed American | 0.0566% | 1,766 |
| European (non-Finnish) | 0.00492% | 20,345 |
| South Asian | 0.0011% | 91,082 |
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
- PRORP
- Protein
- p.Val157=
- Coding
- c.471G>A
- MANE Select
- NM_014672
- Type
- single nucleotide variant
- Location
- chr14:35123716 (GRCh38)
- Gene constraint
- LOEUF 0.999 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.19 · 5 PDB
- Residue 157
- an α-helix
Similar variants
- PRORP p.Arg421Cys Uncertain significance ★★ ⚠ same type
- PRORP p.Arg502Gln Uncertain significance ★★ ⚠ same type
- PRORP p.Asn412Ser Uncertain significance ★★ ⚠ same type
- PRORP p.Lys76= Likely benign ★★ same type
- PRORP p.Ala434Asp Likely pathogenic ★ ⚠ same type
- PRORP c.-1A>G Uncertain significance ★ same type
- PRORP p.Ala104Val Uncertain significance ★ ⚠ same type
- PRORP p.Ala158Thr 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/prorp-p-val157 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown