V405L (p.Val405Leu) variant of FKRP (Q9H9S5)
V405L (p.Val405Leu) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies). The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
V405L (p.Val405Leu) variant details
- p.Val405Leu
- rs28937904
- ClinGen CA116712
- ClinVar RCV000004448
- ClinVar RCV003466809
- Likely pathogenic
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.80
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic (in MDDGB5)
- UniProt: Pathogenic (in MDDGB5)
- Structural context available
- Cited in: New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system… (PMID 14652796)
- Cited in: Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary… (PMID 11592034)