D12N (p.Asp12Asn) variant of CHD2 (O14647)
D12N (p.Asp12Asn) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- gnomAD rs1425971436
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.34
- MetaLR 0.51
- MetaSVM -0.09
- CADD 25.30
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available