R54Q (p.Arg54Gln) variant of FKRP (Q9H9S5)
R54Q (p.Arg54Gln) 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 0.76 / 1. The record also includes population frequency data and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs2122609879
- ClinGen CA406494776
- ClinVar RCV002049182
- Ensembl rs2122609879
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.75
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Likely pathogenic (in MDDGC5)
- UniProt: Likely pathogenic (in MDDGC5)
- Population evidence available
- Structural context available