R2L (p.Arg2Leu) variant of FKRP (Q9H9S5)
R2L (p.Arg2Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R2L (p.Arg2Leu) variant details
- p.Arg2Leu
- rs1308459613
- ClinGen CA406494481
- ClinVar RCV000524840
- TOPMed rs1308459613
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.83
- CADD 27.30
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available