R5P (p.Arg5Pro) variant of FKRP (Q9H9S5)
R5P (p.Arg5Pro) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- gnomAD rs1270612767
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.63
- CADD 24.40
- PolyPhen-2 0.73
- SIFT 0.24
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available