A321E (p.Ala321Glu) variant of FKRP (Q9H9S5)
A321E (p.Ala321Glu) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy; Myopathy caused by variation in FK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A321E (p.Ala321Glu) variant details
- p.Ala321Glu
- rs745882222
- ClinGen CA9532217
- ClinVar RCV001196908
- ClinVar RCV002561048
- Pathogenic/Likely pathogenic
- Walker-Warburg congenital muscular dystrophy; Myopathy caused by variation in FK
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.80
- CADD 22.80
- PolyPhen-2 0.94
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Walker-Warburg congenital muscular dystrophy; Myopathy caused by)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)