A100V (p.Ala100Val) variant of CHD8 (Q9HCK8)
A100V (p.Ala100Val) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
A100V (p.Ala100Val) variant details
- p.Ala100Val
- gnomAD rs1291661397
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)