P462L (p.Pro462Leu) variant of FKRP (Q9H9S5)
P462L (p.Pro462Leu) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P462L (p.Pro462Leu) variant details
- p.Pro462Leu
- rs2513999779
- ClinGen CA406497258
- ClinVar RCV003044842
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.93
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Likely pathogenic (in MDDGC5)
- UniProt: Likely pathogenic (in MDDGC5)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available