R35L (p.Arg35Leu) variant of FKRP (Q9H9S5)
R35L (p.Arg35Leu) in FKRP (Q9H9S5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R35L (p.Arg35Leu) variant details
- p.Arg35Leu
- ExAC rs754088436
- gnomAD rs754088436
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.43
- CADD 15.10
- PolyPhen-2 0.03
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available