G345A (p.Gly345Ala) variant of FKRP (Q9H9S5)
G345A (p.Gly345Ala) 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 0.88 / 1. The record also includes population frequency data and structural context.
G345A (p.Gly345Ala) variant details
- p.Gly345Ala
- rs1249694833
- ClinGen CA406496517
- ClinVar RCV001814462
- ClinVar RCV005094752
- Pathogenic/Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; Walker-Warburg congenital mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.96
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy; Walker-Warbu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available