E50Q (p.Glu50Gln) variant of NOS1AP (O75052)
E50Q (p.Glu50Gln) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E50Q (p.Glu50Gln) variant details
- p.Glu50Gln
- Ensembl rs1649846364
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.27
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available