R99K (p.Arg99Lys) variant of KCNA2 (P16389)
R99K (p.Arg99Lys) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R99K (p.Arg99Lys) variant details
- p.Arg99Lys
- rs2524622393
- ClinGen CA341606011
- ClinVar RCV002442079
- ClinVar RCV006471374
- Uncertain significance
- Developmental and epileptic encephalopathy, 32; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.43
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.18
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)