S8C (p.Ser8Cys) variant of CHD2 (O14647)
S8C (p.Ser8Cys) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S8C (p.Ser8Cys) variant details
- p.Ser8Cys
- TOPMed rs2052524639
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- MetaLR 0.49
- MetaSVM -0.27
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available