R312S (p.Arg312Ser) variant of FKRP (Q9H9S5)
R312S (p.Arg312Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R312S (p.Arg312Ser) variant details
- p.Arg312Ser
- gnomAD rs2054923228
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.77
- AlphaMissense 0.93
- MetaLR 0.89
- MetaSVM 0.97
- CADD 24.70
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- UniProt: Likely pathogenic (in MDDGC5)
- Population evidence available
- Structural context available