E42K (p.Glu42Lys) variant of KCNJ10 (P78508)
E42K (p.Glu42Lys) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- rs794727265
- ClinGen CA241456
- cosmic curated COSV63633
- ClinVar RCV000175716
- Uncertain significance
- not provided; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 23.30
- PolyPhen-2 0.53
- SIFT 0.55
- ClinVar: Uncertain significance (not provided; EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available