Y23C (p.Tyr23Cys) variant of FKRP (Q9H9S5)
Y23C (p.Tyr23Cys) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; Muscular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- rs201951207
- ClinGen CA9532103
- ClinVar RCV000821581
- ClinVar RCV001825661
- Uncertain significance
- Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; Muscular
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.80
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype; Walker-Warburg congenital muscular dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0098)
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)