N62S (p.Asn62Ser) variant of CHD7 (Q9P2D1)
N62S (p.Asn62Ser) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N62S (p.Asn62Ser) variant details
- p.Asn62Ser
- gnomAD rs1380251518
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -0.95
- CADD 16.40
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available