P448L (p.Pro448Leu) variant of FKRP (Q9H9S5)
P448L (p.Pro448Leu) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P448L (p.Pro448Leu) variant details
- p.Pro448Leu
- rs104894681
- ClinGen CA116699
- ClinVar RCV000360542
- ClinVar RCV000763056
- Pathogenic/Likely pathogenic
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype; Muscular
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Pathogenic (in MDDGB5)
- UniProt: Pathogenic (in MDDGB5)
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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: Phenotypic spectrum associated with mutations in the fukutin-related protein gene. (PMID 12666124)