Q63K (p.Gln63Lys) variant of CHM (P24386)
Q63K (p.Gln63Lys) in CHM (P24386) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Q63K (p.Gln63Lys) variant details
- p.Gln63Lys
- Ensembl rs1931625420
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.05
- MetaLR 0.13
- MetaSVM -0.99
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.34
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available