G29C (p.Gly29Cys) variant of NOS1AP (O75052)
G29C (p.Gly29Cys) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G29C (p.Gly29Cys) variant details
- p.Gly29Cys
- gnomAD 1-162070262-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.62
- MetaLR 0.10
- MetaSVM -0.95
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available