P47L (p.Pro47Leu) variant of FKRP (Q9H9S5)
P47L (p.Pro47Leu) 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.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- ExAC rs761512840
- gnomAD rs761512840
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.57
- CADD 20.70
- PolyPhen-2 0.27
- SIFT 0.03
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available