E23G (p.Glu23Gly) variant of NOS1AP (O75052)
E23G (p.Glu23Gly) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- gnomAD 1-162070245-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.25
- MetaLR 0.06
- MetaSVM -1.10
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available