A92S (p.Ala92Ser) variant of KCNJ10 (P78508)
A92S (p.Ala92Ser) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; EAST syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
A92S (p.Ala92Ser) variant details
- p.Ala92Ser
- rs1314505994
- ClinGen CA343229039
- ClinVar RCV000499500
- ClinVar RCV001368931
- Uncertain significance
- not specified; EAST syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 13.50
- PolyPhen-2 0.14
- SIFT 0.71
- ClinVar: Uncertain significance (not specified; EAST syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available