S3N (p.Ser3Asn) variant of NOS1AP (O75052)
S3N (p.Ser3Asn) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- gnomAD 1-162070185-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.27
- MetaLR 0.13
- MetaSVM -0.90
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available