M1T (p.Met1Thr) variant of KCNJ2 (P63252)
M1T (p.Met1Thr) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The record also includes variant effect predictions and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs786205810
- ClinGen CA302009
- ClinVar RCV000170969
- ClinVar RCV002433737
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- MetaLR 0.23
- MetaSVM -0.69
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available