R275C (p.Arg275Cys) variant of FKRP (Q9H9S5)
R275C (p.Arg275Cys) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Walker-Warburg congenital muscular dystrophy; Autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R275C (p.Arg275Cys) variant details
- p.Arg275Cys
- rs1247934219
- ClinGen CA406496081
- ClinVar RCV000596371
- ClinVar RCV000674695
- Pathogenic/Likely pathogenic
- not provided; Walker-Warburg congenital muscular dystrophy; Autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.79
- CADD 25.70
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Walker-Warburg congenital muscular dystrophy; Auto)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 8.5e-05)
- Structural context available