L15H (p.Leu15His) variant of CHD2 (O14647)
L15H (p.Leu15His) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L15H (p.Leu15His) variant details
- p.Leu15His
- gnomAD 15-92901323-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available