G25A (p.Gly25Ala) variant of NOD2 (Q9HC29)
G25A (p.Gly25Ala) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Regional enteritis; Blau syndrome. 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.
G25A (p.Gly25Ala) variant details
- p.Gly25Ala
- rs567793250
- ClinGen CA395865146
- ClinVar RCV003798654
- Uncertain significance
- Regional enteritis; Blau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- MetaLR 0.13
- MetaSVM -1.03
- CADD 23.30
- SIFT 0.23
- ClinVar: Uncertain significance (Regional enteritis; Blau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available