Q63R (p.Gln63Arg) variant of CHM (P24386)
Q63R (p.Gln63Arg) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q63R (p.Gln63Arg) variant details
- p.Gln63Arg
- gnomAD rs1354740993
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.90
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 5.3e-05)
- Structural context available