Q11K (p.Gln11Lys) variant of KCNJ10 (P78508)
Q11K (p.Gln11Lys) 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 0.78 / 1. The record also includes population frequency data.
Q11K (p.Gln11Lys) variant details
- p.Gln11Lys
- rs2525431789
- ClinGen CA343231108
- ClinVar RCV003034550
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 25.70
- PolyPhen-2 0.86
- SIFT 0.01
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available