G80A (p.Gly80Ala) variant of NOS1AP (O75052)
G80A (p.Gly80Ala) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G80A (p.Gly80Ala) variant details
- p.Gly80Ala
- gnomAD 1-162287405-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.48
- MetaLR 0.16
- MetaSVM -0.65
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available