R15M (p.Arg15Met) variant of NOD2 (Q9HC29)
R15M (p.Arg15Met) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R15M (p.Arg15Met) variant details
- p.Arg15Met
- rs104895487
- gnomAD 16-50699527-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- MetaLR 0.20
- MetaSVM -0.76
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available
- Cited in: Novel CARD15/NOD2 mutations in Finnish patients with Crohn's disease and their relation to phenotypic variation in… (PMID 17941079)