G38R (p.Gly38Arg) variant of FKRP (Q9H9S5)
G38R (p.Gly38Arg) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- Ensembl rs2054891162
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.33
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available