R312P (p.Arg312Pro) variant of FKRP (Q9H9S5)
R312P (p.Arg312Pro) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
R312P (p.Arg312Pro) variant details
- p.Arg312Pro
- rs868138875
- ClinGen CA406496317
- ClinVar RCV002913462
- Pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.54
- MetaLR 0.71
- MetaSVM 0.44
- PolyPhen-2 0.79
- SIFT 0.01
- EVE 0.59
- ClinVar: Pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Structural context available