G25D (p.Gly25Asp) variant of NOD2 (Q9HC29)
G25D (p.Gly25Asp) in NOD2 (Q9HC29) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- rs567793250
- NCI-TCGA Cosmic COSV1003
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- MetaLR 0.16
- MetaSVM -1.00
- CADD 23.60
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available