P45H (p.Pro45His) variant of CHD2 (O14647)
P45H (p.Pro45His) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P45H (p.Pro45His) variant details
- p.Pro45His
- gnomAD 15-92901371-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 17.70
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available
- Literature evidence available