M28V (p.Met28Val) variant of NOD2 (Q9HC29)
M28V (p.Met28Val) 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 0.42 / 1. The record also includes population frequency data and structural context.
M28V (p.Met28Val) variant details
- p.Met28Val
- rs372321755
- ClinGen CA8051196
- ClinVar RCV002537440
- Uncertain significance
- Blau syndrome; Regional enteritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.14
- MetaLR 0.45
- MetaSVM -0.07
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Blau syndrome; Regional enteritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available