R41H (p.Arg41His) variant of FKRP (Q9H9S5)
R41H (p.Arg41His) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs201497063
- ClinGen CA406494706
- cosmic curated COSV10882
- ClinVar RCV001979668
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.18
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available