D70N (p.Asp70Asn) variant of CHD7 (Q9P2D1)
D70N (p.Asp70Asn) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D70N (p.Asp70Asn) variant details
- p.Asp70Asn
- gnomAD 8-60741640-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.06
- MetaLR 0.12
- MetaSVM -0.95
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available