N22D (p.Asn22Asp) variant of NOS1AP (O75052)
N22D (p.Asn22Asp) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N22D (p.Asn22Asp) variant details
- p.Asn22Asp
- gnomAD 1-162070241-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.17
- MetaLR 0.04
- MetaSVM -1.10
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available