P462S (p.Pro462Ser) variant of FKRP (Q9H9S5)
P462S (p.Pro462Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; Autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P462S (p.Pro462Ser) variant details
- p.Pro462Ser
- rs768606230
- ClinGen CA9532308
- ClinVar RCV000671396
- ClinVar RCV001573804
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; Autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.93
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Walker-Warburg congenital muscular dys)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Phenotypic spectrum associated with mutations in the fukutin-related protein gene. (PMID 12666124)
- Cited in: Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic… (PMID 11741828)