M1T (p.Met1Thr) variant of NOD2 (Q9HC29)
M1T (p.Met1Thr) 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 record also includes variant effect predictions and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs765406921
- ClinGen CA8051160
- ClinVar RCV002529863
- Uncertain significance
- Regional enteritis; Blau syndrome
- Missense
- MetaLR 0.14
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Regional enteritis; Blau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available