P16R (p.Pro16Arg) variant of KCNA2 (P16389)
P16R (p.Pro16Arg) 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 0.59 / 1. The record also includes structural context.
P16R (p.Pro16Arg) variant details
- p.Pro16Arg
- rs1649522718
- ClinGen CA341607311
- ClinVar RCV001224485
- Ensembl rs1649522718
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.16
- MetaLR 0.80
- MetaSVM 0.34
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.43
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available