P8Q (p.Pro8Gln) variant of KCNA2 (P16389)
P8Q (p.Pro8Gln) 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 0.47 / 1. The record also includes structural context.
P8Q (p.Pro8Gln) variant details
- p.Pro8Gln
- rs1487522107
- ClinGen CA341607422
- ClinVar RCV003589425
- cosmic curated COSV10514
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.08
- MetaLR 0.58
- MetaSVM -0.17
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.34
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available