E33G (p.Glu33Gly) variant of NOS1AP (O75052)
E33G (p.Glu33Gly) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- gnomAD 1-162070275-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.19
- MetaLR 0.04
- MetaSVM -1.12
- CADD 32.00
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available