N46S (p.Asn46Ser) variant of NOS1AP (O75052)
N46S (p.Asn46Ser) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N46S (p.Asn46Ser) variant details
- p.Asn46Ser
- gnomAD rs1259949438
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.06
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available