L16V (p.Leu16Val) variant of NOS1AP (O75052)
L16V (p.Leu16Val) 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 0.32 / 1. The record also includes structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- rs1691631574
- ClinGen CA343464789
- ClinVar RCV004285306
- TOPMed rs1691631574
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.31
- MetaLR 0.01
- MetaSVM -0.95
- PolyPhen-2 0.96
- SIFT 0.18
- MutPred 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available