E50K (p.Glu50Lys) variant of NOS1AP (O75052)
E50K (p.Glu50Lys) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- gnomAD 1-162154447-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.32
- MetaLR 0.14
- MetaSVM -0.77
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available