A84V (p.Ala84Val) variant of CHD8 (Q9HCK8)
A84V (p.Ala84Val) in CHD8 (Q9HCK8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)