L93V (p.Leu93Val) variant of NOS1AP (O75052)
L93V (p.Leu93Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
L93V (p.Leu93Val) variant details
- p.Leu93Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.66
- SIFT 0.43
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available