R2W (p.Arg2Trp) variant of FKRP (Q9H9S5)
R2W (p.Arg2Trp) 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; not provided; Walker-Warburg congenital muscular dystr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R2W (p.Arg2Trp) variant details
- p.Arg2Trp
- rs748272589
- ClinGen CA9532088
- ClinVar RCV000822659
- ClinVar RCV001825665
- Uncertain significance
- Cardiovascular phenotype; not provided; Walker-Warburg congenital muscular dystr
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.80
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Walker-Warburg congenita)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available