A28V (p.Ala28Val) variant of CHD2 (O14647)
A28V (p.Ala28Val) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs908519850
- gnomAD 15-92901356-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 19.30
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available