Q63H (p.Gln63His) variant of CHM (P24386)
Q63H (p.Gln63His) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q63H (p.Gln63His) variant details
- p.Gln63His
- rs2520327443
- ClinGen CA413788230
- ClinVar RCV003112458
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -1.00
- CADD 32.00
- PolyPhen-2 0.02
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available