R41L (p.Arg41Leu) variant of FKRP (Q9H9S5)
R41L (p.Arg41Leu) 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; Walker-Warburg congenital muscular dystrophy; Muscular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- rs201497063
- ClinGen CA9532114
- ClinVar RCV000552107
- ClinVar RCV001829569
- Uncertain significance
- Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; Muscular
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.22
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Walker-Warburg congenital muscular dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)