R5C (p.Arg5Cys) variant of FKRP (Q9H9S5)
R5C (p.Arg5Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs1060502108
- ClinGen CA16616284
- ClinVar RCV000465267
- ClinVar RCV001828467
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.51
- CADD 23.80
- PolyPhen-2 0.68
- SIFT 0.13
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available