R312L (p.Arg312Leu) variant of FKRP (Q9H9S5)
R312L (p.Arg312Leu) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Abnormality of the musculature; Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R312L (p.Arg312Leu) variant details
- p.Arg312Leu
- rs868138875
- ClinGen CA309099625
- ClinVar RCV001814552
- ClinVar RCV001873816
- Conflicting interpretations
- Abnormality of the musculature; Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.70
- AlphaMissense 0.54
- MetaLR 0.71
- MetaSVM 0.44
- CADD 23.70
- PolyPhen-2 0.79
- ClinVar: Conflicting classifications of pathogenicity (Abnormality of the musculature; Walker-Warburg congenital muscul)
- EBI: Likely pathogenic (in MDDGC5)
- UniProt: Likely pathogenic (in MDDGC5)
- Population evidence available
- Structural context available