D11V (p.Asp11Val) variant of NOD2 (Q9HC29)
D11V (p.Asp11Val) 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 0.12 / 1. The record also includes population frequency data and structural context.
D11V (p.Asp11Val) variant details
- p.Asp11Val
- rs754538287
- ClinGen CA8051168
- ClinVar RCV003781351
- Uncertain significance
- Blau syndrome; Regional enteritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- MetaLR 0.16
- MetaSVM -0.93
- CADD 0.21
- SIFT 0.09
- ClinVar: Uncertain significance (Blau syndrome; Regional enteritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available