Q9H (p.Gln9His) variant of CHD2 (O14647)
Q9H (p.Gln9His) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q9H (p.Gln9His) variant details
- p.Gln9His
- Ensembl rs1555435025
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.37
- MetaLR 0.52
- MetaSVM 0.02
- CADD 23.80
- PolyPhen-2 0.19
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available