R48P (p.Arg48Pro) variant of FKRP (Q9H9S5)
R48P (p.Arg48Pro) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R48P (p.Arg48Pro) variant details
- p.Arg48Pro
- gnomAD rs1202967308
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.67
- CADD 18.90
- PolyPhen-2 0.51
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available