S43C (p.Ser43Cys) variant of FKRP (Q9H9S5)
S43C (p.Ser43Cys) 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; Muscular dystrophy-dystroglycanopathy type B5; Autosom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S43C (p.Ser43Cys) variant details
- p.Ser43Cys
- rs1555738085
- ClinGen CA406494717
- ClinVar RCV000577932
- ClinVar RCV000578007
- Uncertain significance
- Cardiovascular phenotype; Muscular dystrophy-dystroglycanopathy type B5; Autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.33
- CADD 15.30
- PolyPhen-2 0.24
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Muscular dystrophy-dystroglycanopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)