R37Q (p.Arg37Gln) variant of FKRP (Q9H9S5)
R37Q (p.Arg37Gln) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- rs779317138
- ClinGen CA9532110
- NCI-TCGA Cosmic COSV5935
- cosmic curated COSV59359
- Uncertain significance
- Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.35
- CADD 16.90
- PolyPhen-2 0.34
- SIFT 0.62
- ClinVar: Uncertain significance (Cardiovascular phenotype; Walker-Warburg congenital muscular dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available