N60S (p.Asn60Ser) variant of CHD7 (Q9P2D1)
N60S (p.Asn60Ser) 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 and structural context.
N60S (p.Asn60Ser) variant details
- p.Asn60Ser
- 1000Genomes rs749583783
- ExAC rs749583783
- gnomAD rs749583783
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.04
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available