T100M (p.Thr100Met) variant of NOS1AP (O75052)
T100M (p.Thr100Met) in NOS1AP (O75052) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T100M (p.Thr100Met) variant details
- p.Thr100Met
- rs201591597
- cosmic curated COSV10527
- TOPMed rs201591597
- gnomAD rs201591597
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.19
- CADD 23.40
- PolyPhen-2 0.27
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available