S82F (p.Ser82Phe) variant of CHD8 (Q9HCK8)
S82F (p.Ser82Phe) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
S82F (p.Ser82Phe) variant details
- p.Ser82Phe
- TOPMed rs1889558800
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 23.60
- PolyPhen-2 0.12
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 6.3e-05)