A157P (p.Ala157Pro) variant of FKRP (Q9H9S5)
A157P (p.Ala157Pro) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.69 / 1. The record also includes population frequency data and structural context.
A157P (p.Ala157Pro) variant details
- p.Ala157Pro
- rs727502842
- ClinGen CA295341
- ClinVar RCV003324234
- ClinVar RCV003466061
- Pathogenic/Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; Walker-Warburg congenital mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.66
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy; Walker-Warbu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available