S64N (p.Ser64Asn) variant of CHD8 (Q9HCK8)
S64N (p.Ser64Asn) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
S64N (p.Ser64Asn) variant details
- p.Ser64Asn
- gnomAD rs1353842186
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 18.40
- PolyPhen-2 0.22
- SIFT 0.28
- Population evidence available