P47H (p.Pro47His) variant of FKRP (Q9H9S5)
P47H (p.Pro47His) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P47H (p.Pro47His) variant details
- p.Pro47His
- ExAC rs761512840
- gnomAD rs761512840
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.58
- CADD 22.70
- PolyPhen-2 0.58
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available