S43G (p.Ser43Gly) variant of CHD2 (O14647)
S43G (p.Ser43Gly) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- gnomAD 15-92924385-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.18
- MetaLR 0.55
- MetaSVM -0.00
- CADD 24.10
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available