R312H (p.Arg312His) variant of FKRP (Q9H9S5)
R312H (p.Arg312His) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar 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 0.76 / 1. The record also includes population frequency data and structural context.
R312H (p.Arg312His) variant details
- p.Arg312His
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10058
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.75
- CADD 26.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- UniProt: Uncertain significance (in MDDGC5)
- Population evidence available
- Structural context available