D32N (p.Asp32Asn) variant of CHD2 (O14647)
D32N (p.Asp32Asn) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D32N (p.Asp32Asn) variant details
- p.Asp32Asn
- rs7179364
- gnomAD 15-92904992-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 15.50
- SIFT 0.29
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available