R54G (p.Arg54Gly) variant of FKRP (Q9H9S5)
R54G (p.Arg54Gly) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.68 / 1. The record also includes population frequency data and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- rs28937905
- ClinGen CA309099208
- ClinVar RCV003041375
- 1000Genomes rs28937905
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; Walker-Warburg congenital mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.80
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy; Walker-Warbu)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available