A74S (p.Ala74Ser) variant of CHD8 (Q9HCK8)
A74S (p.Ala74Ser) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A74S (p.Ala74Ser) variant details
- p.Ala74Ser
- TOPMed rs1384175787
- gnomAD rs1384175787
- Missense
- Variant Prioritization Score for Impact Estimate 0.0778
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available