T12N (p.Thr12Asn) variant of KCNJ10 (P78508)
T12N (p.Thr12Asn) 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 0.57 / 1.
T12N (p.Thr12Asn) variant details
- p.Thr12Asn
- rs2101925216
- ClinGen CA343231016
- ClinVar RCV001371655
- Ensembl rs2101925216
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- AlphaMissense 0.27
- MetaLR 0.56
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.20
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance