S47G (p.Ser47Gly) variant of CHD2 (O14647)
S47G (p.Ser47Gly) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- Ensembl rs1596379566
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.09
- MetaLR 0.45
- MetaSVM -0.48
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available