C31Y (p.Cys31Tyr) variant of NOS1AP (O75052)
C31Y (p.Cys31Tyr) 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 0.30 / 1. The record also includes structural context.
C31Y (p.Cys31Tyr) variant details
- p.Cys31Tyr
- rs1691632353
- ClinGen CA343464893
- ClinVar RCV001193263
- Ensembl rs1691632353
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.23
- MetaLR 0.01
- MetaSVM -1.02
- PolyPhen-2 0.03
- SIFT 0.51
- MutPred 0.46
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available