G25V (p.Gly25Val) variant of NOD2 (Q9HC29)
G25V (p.Gly25Val) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- rs950712918
- gnomAD 16-50699569-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- MetaLR 0.05
- MetaSVM -1.10
- CADD 20.20
- PolyPhen-2 0.42
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available