N32S (p.Asn32Ser) variant of CHD7 (Q9P2D1)
N32S (p.Asn32Ser) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- ExAC rs755642503
- gnomAD rs755642503
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.02
- CADD 17.70
- PolyPhen-2 0.06
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.574