K90E (p.Lys90Glu) variant of NOS1AP (O75052)
K90E (p.Lys90Glu) in NOS1AP (O75052) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
K90E (p.Lys90Glu) variant details
- p.Lys90Glu
- rs1215631561
- ClinGen CA343392604
- ClinVar RCV000623880
- TOPMed rs1215631561
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.75
- MetaLR 0.06
- MetaSVM -1.10
- PolyPhen-2 0.92
- SIFT 0.04
- MutPred 0.45
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available