S17N (p.Ser17Asn) variant of CHD2 (O14647)
S17N (p.Ser17Asn) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- TOPMed rs1170983948
- gnomAD rs1170983948
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.33
- MetaLR 0.70
- MetaSVM 0.27
- CADD 28.80
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available