L97Q (p.Leu97Gln) variant of KCNJ10 (P78508)
L97Q (p.Leu97Gln) 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 0.56 / 1. The record also includes population frequency data.
L97Q (p.Leu97Gln) variant details
- p.Leu97Gln
- rs1401791648
- ClinGen CA343228923
- ClinVar RCV000646756
- TOPMed rs1401791648
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 17.90
- PolyPhen-2 0.05
- SIFT 0.63
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available