P16S (p.Pro16Ser) variant of KCNA2 (P16389)
P16S (p.Pro16Ser) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, 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 0.56 / 1. The record also includes population frequency data and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- rs1570754155
- ClinGen CA341607313
- cosmic curated COSV10647
- ClinVar RCV000821856
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.43
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.17
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available