T13S (p.Thr13Ser) variant of KCNJ10 (P78508)
T13S (p.Thr13Ser) 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 0.44 / 1.
T13S (p.Thr13Ser) variant details
- p.Thr13Ser
- rs1648635350
- ClinGen CA343230960
- ClinVar RCV003617365
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.32
- MetaLR 0.31
- MetaSVM -0.36
- PolyPhen-2 0.84
- SIFT 0.04
- MutPred 0.24
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance