P23T (p.Pro23Thr) variant of KCNJ10 (P78508)
P23T (p.Pro23Thr) 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 0.32 / 1.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- rs1648632903
- ClinGen CA343230615
- ClinVar RCV002295984
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.09
- MetaLR 0.18
- MetaSVM -0.89
- PolyPhen-2 0.00
- SIFT 0.39
- EVE 0.08
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance