Y95F (p.Tyr95Phe) variant of CHD8 (Q9HCK8)
Y95F (p.Tyr95Phe) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
Y95F (p.Tyr95Phe) variant details
- p.Tyr95Phe
- gnomAD rs1220569576
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 16.80
- PolyPhen-2 0.03
- SIFT 0.53
- Most common in the African/African-American population (allele frequency 3.2e-05)