P47R (p.Pro47Arg) variant of FKRP (Q9H9S5)
P47R (p.Pro47Arg) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P47R (p.Pro47Arg) variant details
- p.Pro47Arg
- ExAC rs761512840
- gnomAD rs761512840
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.58
- CADD 16.60
- PolyPhen-2 0.35
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available