K82E (p.Lys82Glu) variant of NOS1AP (O75052)
K82E (p.Lys82Glu) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
K82E (p.Lys82Glu) variant details
- p.Lys82Glu
- TOPMed rs1474301019
- gnomAD rs1474301019
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.45
- CADD 26.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available