P25S (p.Pro25Ser) variant of KCNA2 (P16389)
P25S (p.Pro25Ser) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- TOPMed rs775717316
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.40
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available