C168Y (p.Cys168Tyr) variant of FKRP (Q9H9S5)
C168Y (p.Cys168Tyr) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-d. 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.
C168Y (p.Cys168Tyr) variant details
- p.Cys168Tyr
- rs554813030
- ClinGen CA406495454
- ClinVar RCV001815627
- 1000Genomes rs554813030
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-d
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.92
- CADD 26.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2I; Musc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)