R294H (p.Arg294His) variant of KCNA2 (P16389)
R294H (p.Arg294His) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 published literature and structural context.
R294H (p.Arg294His) variant details
- p.Arg294His
- rs886041761
- ClinGen CA10602728
- cosmic curated COSV10031
- ClinVar RCV000339475
- Pathogenic/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: Pathogenic/Likely pathogenic (Complex neurodevelopmental disorder; KCNA2-related disorder; Dev)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)