C318Y (p.Cys318Tyr) variant of FKRP (Q9H9S5)
C318Y (p.Cys318Tyr) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies). The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C318Y (p.Cys318Tyr) variant details
- p.Cys318Tyr
- rs104894684
- ClinGen CA116726
- ClinVar RCV000004456
- UniProt VAR 022852
- Likely pathogenic
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.94
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Muscular dystrophy-dystroglycanopathy (congenital with brain and)
- EBI: Pathogenic (in MDDGA5)
- UniProt: Pathogenic (in MDDGA5)
- Population evidence available
- Structural context available
- Cited in: Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (PMID 15121789)