P19L (p.Pro19Leu) variant of NOS1AP (O75052)
P19L (p.Pro19Leu) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- gnomAD 1-162070233-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.29
- MetaLR 0.05
- MetaSVM -1.11
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available