D6Y (p.Asp6Tyr) variant of CHD2 (O14647)
D6Y (p.Asp6Tyr) 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.
D6Y (p.Asp6Tyr) variant details
- p.Asp6Tyr
- gnomAD 15-92904929-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 9.15
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available