M75I (p.Met75Ile) variant of NOS1AP (O75052)
M75I (p.Met75Ile) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
M75I (p.Met75Ile) variant details
- p.Met75Ile
- gnomAD 1-162287391-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -1.00
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available