R54W (p.Arg54Trp) variant of FKRP (Q9H9S5)
R54W (p.Arg54Trp) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy; Walker-Warburg congenital mu. 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.
R54W (p.Arg54Trp) variant details
- p.Arg54Trp
- rs28937905
- ClinGen CA116714
- NCI-TCGA Cosmic COSV5936
- cosmic curated COSV59360
- Pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; Walker-Warburg congenital mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.91
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive limb-girdle muscular dystrophy; Walker-Warbu)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with… (PMID 14523375)
- Cited in: Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic… (PMID 11741828)