N60D (p.Asn60Asp) variant of CHD7 (Q9P2D1)
N60D (p.Asn60Asp) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N60D (p.Asn60Asp) variant details
- p.Asn60Asp
- gnomAD 8-60741610-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.00
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available