H16D (p.His16Asp) variant of CHD2 (O14647)
H16D (p.His16Asp) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H16D (p.His16Asp) variant details
- p.His16Asp
- gnomAD 15-92904914-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 16.50
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available