V405M (p.Val405Met) variant of FKRP (Q9H9S5)
V405M (p.Val405Met) 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 0.83 / 1. The record also includes population frequency data and structural context.
V405M (p.Val405Met) variant details
- p.Val405Met
- cosmic curated COSV59359
- TOPMed rs28937904
- gnomAD rs28937904
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.82
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic (in MDDGB5)
- UniProt: Pathogenic (in MDDGB5)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available