W99C (p.Trp99Cys) variant of NOS1AP (O75052)
W99C (p.Trp99Cys) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
W99C (p.Trp99Cys) variant details
- p.Trp99Cys
- gnomAD 1-162300659-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.39
- MetaLR 0.57
- MetaSVM 0.25
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available