K70T (p.Lys70Thr) variant of NOS1AP (O75052)
K70T (p.Lys70Thr) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K70T (p.Lys70Thr) variant details
- p.Lys70Thr
- gnomAD 1-162287375-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.33
- MetaLR 0.06
- MetaSVM -1.10
- CADD 26.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available