A8S (p.Ala8Ser) variant of NOD2 (Q9HC29)
A8S (p.Ala8Ser) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Blau syndrome; Regional enteritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- rs764563350
- ClinGen CA8051163
- ClinVar RCV002552981
- Uncertain significance
- Blau syndrome; Regional enteritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- MetaLR 0.18
- MetaSVM -0.91
- CADD 11.20
- SIFT 0.44
- ClinVar: Uncertain significance (Blau syndrome; Regional enteritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available