T22S (p.Thr22Ser) variant of KCNA2 (P16389)
T22S (p.Thr22Ser) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Developmental and epileptic encephalopathy, 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T22S (p.Thr22Ser) variant details
- p.Thr22Ser
- rs1403692006
- ClinGen CA341607195
- ClinVar RCV002131158
- TOPMed rs1403692006
- Likely benign
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.21
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 32)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available