Y182C (p.Tyr182Cys) variant of FKRP (Q9H9S5)
Y182C (p.Tyr182Cys) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype; Muscular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Y182C (p.Tyr182Cys) variant details
- p.Tyr182Cys
- rs543163491
- ClinGen CA9532164
- ClinVar RCV000336106
- ClinVar RCV000810074
- Pathogenic
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype; Muscular
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.84
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Pathogenic (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. (PMID 14647208)
- Cited in: Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic… (PMID 11741828)