R294P (p.Arg294Pro) variant of KCNA2 (P16389)
R294P (p.Arg294Pro) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder; KCNA2-related disorder; Developmental and e. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
R294P (p.Arg294Pro) variant details
- p.Arg294Pro
- rs886041761
- ClinGen CA341602931
- ClinVar RCV003031815
- Likely pathogenic
- Complex neurodevelopmental disorder; KCNA2-related disorder; Developmental and e
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.78
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 32)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available