R40S (p.Arg40Ser) variant of FKRP (Q9H9S5)
R40S (p.Arg40Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R40S (p.Arg40Ser) variant details
- p.Arg40Ser
- rs1015213074
- ClinGen CA309099198
- ClinVar RCV002616475
- ClinVar RCV004621737
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.37
- CADD 9.24
- PolyPhen-2 0.02
- SIFT 0.74
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available