P43A (p.Pro43Ala) variant of NOS1AP (O75052)
P43A (p.Pro43Ala) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- gnomAD 1-162154426-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.10
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available