P316R (p.Pro316Arg) variant of FKRP (Q9H9S5)
P316R (p.Pro316Arg) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype; Muscular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P316R (p.Pro316Arg) variant details
- p.Pro316Arg
- rs752582904
- ClinGen CA245436
- ClinVar RCV000263428
- ClinVar RCV001065681
- Pathogenic/Likely pathogenic
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype; Muscular
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.90
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Pathogenic (in MDDGB5 and MDDGC5)
- UniProt: Pathogenic (in MDDGB5 and MDDGC5)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary… (PMID 11592034)
- Cited in: Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic… (PMID 11741828)