G83V (p.Gly83Val) variant of KCNJ10 (P78508)
G83V (p.Gly83Val) in KCNJ10 (P78508) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1.
G83V (p.Gly83Val) variant details
- p.Gly83Val
- rs17853258
- ESP rs17853258
- ExAC rs17853258
- TOPMed rs17853258
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.63
- MetaLR 0.82
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance