S14W (p.Ser14Trp) variant of CHD2 (O14647)
S14W (p.Ser14Trp) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S14W (p.Ser14Trp) variant details
- p.Ser14Trp
- gnomAD 15-92901278-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.44
- MetaLR 0.78
- MetaSVM 0.55
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available