D10V (p.Asp10Val) variant of CHD8 (Q9HCK8)
D10V (p.Asp10Val) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
D10V (p.Asp10Val) variant details
- p.Asp10Val
- ExAC rs755040002
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)