P117R (p.Pro117Arg) variant of FKRP (Q9H9S5)
P117R (p.Pro117Arg) 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.
P117R (p.Pro117Arg) variant details
- p.Pro117Arg
- rs941905630
- ClinGen CA309099259
- ClinVar RCV003593341
- ClinVar RCV006454445
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; Walker-Warburg congenital mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.71
- CADD 22.10
- PolyPhen-2 0.50
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy; Walker-Warbu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available