N8S (p.Asn8Ser) variant of NOS1AP (O75052)
N8S (p.Asn8Ser) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N8S (p.Asn8Ser) variant details
- p.Asn8Ser
- gnomAD 1-162070200-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.37
- MetaLR 0.46
- MetaSVM -0.09
- CADD 26.80
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available