A12V (p.Ala12Val) variant of KCNA2 (P16389)
A12V (p.Ala12Val) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Developmental and epileptic encephalopathy, 32; not provided; Inborn genetic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs372822052
- ClinGen CA1000760
- ClinVar RCV000821582
- ClinVar RCV001575914
- Likely benign
- Developmental and epileptic encephalopathy, 32; not provided; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 32; not provided; In)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- 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)