V338L (p.Val338Leu) variant of FKRP (Q9H9S5)
V338L (p.Val338Leu) 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; Abnormality of the musculature. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V338L (p.Val338Leu) variant details
- p.Val338Leu
- rs1173430388
- ClinGen CA406496466
- ClinVar RCV001814334
- ClinVar RCV001873810
- Pathogenic/Likely pathogenic
- Walker-Warburg congenital muscular dystrophy; Abnormality of the musculature
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.75
- CADD 24.20
- ClinVar: Pathogenic/Likely pathogenic (Walker-Warburg congenital muscular dystrophy; Abnormality of the)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)