FKRP p.Cys191=
c.573C>T · rs763156437 · VCV388013
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.133%, mid)
Conditions
2
Cardiovascular phenotype
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 -2.7 | GERP -2 |
| Overall | ||
| CADD | 6.886 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.133%
Middle Eastern · 8/6,014 alleles
Filtering AF
0.0661%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0483%
Overall
0.000983%
14/1,424,092 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.133% | 752 |
| Admixed American | 0.00698% | 14,321 |
| Remaining individualsnot grpmax-eligible | 0.00163% | 61,304 |
| European (non-Finnish) | 8.55e-05% | 1,169,852 |
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
- FKRP
- Protein
- p.Cys191=
- Coding
- c.573C>T
- MANE Select
- NM_024301
- dbSNP
- rs763156437
- Type
- single nucleotide variant
- Location
- chr19:46756023 (GRCh38)
- Gene constraint
- LOEUF 1.543 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.08 · 8 PDB
- Residue 191
- a disulfide bond; a β-strand
Similar variants
- FKRP p.Cys191fs Pathogenic/Likely pathogenic ★★ same residue
- FKRP p.Ala157Pro Pathogenic/Likely pathogenic ★★ same condition
- FKRP p.Ala321Glu Pathogenic/Likely pathogenic ★★ ⚠ same condition
- FKRP p.Ala455Asp Pathogenic ★★ same condition
- FKRP p.Arg176Ter Pathogenic/Likely pathogenic ★★ same condition
- FKRP p.Arg275Cys Pathogenic/Likely pathogenic ★★ same condition
- FKRP p.Arg54Gly Likely pathogenic ★★ ⚠ same condition
- FKRP p.Asn463Asp Pathogenic/Likely pathogenic ★★ same condition
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/fkrp-p-cys191 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown