GSR p.Pro231=
c.693C>T · VCV4804506
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.009 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -4.7 |
| Overall | ||
| CADD | 2.689 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,072 alleles
Filtering AF
0.00255%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00162%
Overall
0.000744%
12/1,611,820 alleles · ultra-rare
exomes 7/1,459,728 · genomes 5/152,092 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,072 |
| African / African-American | 0.00668% | 14,972 |
| Admixed American | 0.00167% | 59,962 |
| South Asian | 0.0011% | 91,036 |
| European (non-Finnish) | 0.00034% | 294,522 |
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
- GSR
- Protein
- p.Pro231=
- Coding
- c.693C>T
- MANE Select
- NM_000637
- Type
- single nucleotide variant
- Location
- chr8:30700083 (GRCh38)
- Gene constraint
- LOEUF 1.182 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.77 · 27 PDB
Similar variants
- GSR p.Pro231Ala Uncertain significance ★★ ⚠ same residue
- GSR p.Ala252Asp Uncertain significance ★★ ⚠ same type
- GSR p.Ala7Ser Uncertain significance ★★ ⚠ same type
- GSR p.Arg147Gly Uncertain significance ★★ ⚠ same type
- GSR p.Arg147Trp Uncertain significance ★★ ⚠ same type
- GSR p.Arg171Leu Uncertain significance ★★ ⚠ same type
- GSR p.Arg233Cys Uncertain significance ★★ ⚠ same type
- GSR p.Arg233His 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/gsr-p-pro231 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown