A455D (p.Ala455Asp) variant of FKRP (Q9H9S5)
A455D (p.Ala455Asp) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Walker-Warburg congenital muscular dystrophy; not provided; Muscular dystrophy-d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A455D (p.Ala455Asp) variant details
- p.Ala455Asp
- rs28937903
- ClinGen CA116710
- ClinVar RCV000004447
- ClinVar RCV000201040
- Pathogenic
- Walker-Warburg congenital muscular dystrophy; not provided; Muscular dystrophy-d
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.82
- CADD 25.60
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Pathogenic (Walker-Warburg congenital muscular dystrophy; not provided; Musc)
- EBI: Pathogenic (in MDDGB5)
- UniProt: Pathogenic (in MDDGB5)
- Population evidence available
- Structural context available
- Cited in: FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. (PMID 12654965)
- Cited in: New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system… (PMID 14652796)