R35P (p.Arg35Pro) variant of FKRP (Q9H9S5)
R35P (p.Arg35Pro) 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 0.37 / 1. The record also includes population frequency data and structural context.
R35P (p.Arg35Pro) variant details
- p.Arg35Pro
- ExAC rs754088436
- gnomAD rs754088436
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.39
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available