V122A (p.Val122Ala) variant of CHD8 (Q9HCK8)
V122A (p.Val122Ala) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
V122A (p.Val122Ala) variant details
- p.Val122Ala
- Ensembl rs1889551936
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 18.40
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 2.4e-05)