V363L (p.Val363Leu) variant of FKRP (Q9H9S5)
V363L (p.Val363Leu) 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 0.77 / 1. The record also includes population frequency data and structural context.
V363L (p.Val363Leu) variant details
- p.Val363Leu
- rs886043075
- ClinGen CA10605077
- ClinVar RCV000378451
- gnomAD rs886043075
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.77
- CADD 26.20
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available