D11E (p.Asp11Glu) variant of NOS1AP (O75052)
D11E (p.Asp11Glu) 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.
D11E (p.Asp11Glu) variant details
- p.Asp11Glu
- gnomAD 1-162070210-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.37
- MetaLR 0.28
- MetaSVM -0.66
- CADD 23.00
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available