S37W (p.Ser37Trp) variant of CHD2 (O14647)
S37W (p.Ser37Trp) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S37W (p.Ser37Trp) variant details
- p.Ser37Trp
- gnomAD rs1255717695
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.51
- MetaLR 0.76
- MetaSVM 0.70
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available