K87E (p.Lys87Glu) variant of NOS1AP (O75052)
K87E (p.Lys87Glu) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K87E (p.Lys87Glu) variant details
- p.Lys87Glu
- gnomAD 1-162287425-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.39
- MetaLR 0.09
- MetaSVM -0.97
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available