I30V (p.Ile30Val) variant of NOS1AP (O75052)
I30V (p.Ile30Val) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- ExAC rs761661228
- TOPMed rs761661228
- gnomAD rs761661228
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.29
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available