Y23C (p.Tyr23Cys) variant of KCNA2 (P16389)
Y23C (p.Tyr23Cys) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy, 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- rs753829876
- ClinGen CA1000758
- ClinVar RCV000558487
- ClinVar RCV002367957
- Conflicting interpretations
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.69
- CADD 24.80
- PolyPhen-2 0.77
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 7.6e-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)