M1T (p.Met1Thr) variant of DOCK8 (Q8NF50)
M1T (p.Met1Thr) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Combined immunodeficiency due to DOCK8 deficiency. The record also includes variant effect predictions and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs760902978
- ClinGen CA4956899
- ClinVar RCV001364837
- ClinVar RCV001824958
- Uncertain significance
- not specified; Combined immunodeficiency due to DOCK8 deficiency
- Missense
- MetaLR 0.03
- MetaSVM -1.05
- PolyPhen-2 1.00
- MutPred 0.15
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency due to DOCK8 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available