M1V (p.Met1Val) variant of KCNJ10 (P78508)
M1V (p.Met1Val) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1260852127
- ClinGen CA343231574
- ClinVar RCV001325483
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- MetaLR 0.39
- MetaSVM -0.22
- PolyPhen-2 0.10
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance