N32D (p.Asn32Asp) variant of CHD7 (Q9P2D1)
N32D (p.Asn32Asp) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N32D (p.Asn32Asp) variant details
- p.Asn32Asp
- gnomAD 8-60741526-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.04
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.574
- Literature evidence available