H22H (p.His22His) variant of CHD2 (O14647)
H22H (p.His22His) in CHD2 (O14647) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H22H (p.His22His) variant details
- p.His22His
- rs2141745833
- gnomAD 15-92924324-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.04
- Population evidence available
- Structural context available
- Literature evidence available