D41N (p.Asp41Asn) variant of NOS1AP (O75052)
D41N (p.Asp41Asn) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- gnomAD 1-162154420-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.30
- MetaLR 0.09
- MetaSVM -1.06
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available