P83L (p.Pro83Leu) variant of KCNA2 (P16389)
P83L (p.Pro83Leu) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; KCNA2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P83L (p.Pro83Leu) variant details
- p.Pro83Leu
- rs1649512695
- ClinGen CA341606227
- ClinVar RCV003257387
- ClinVar RCV004548558
- Uncertain significance
- Inborn genetic diseases; KCNA2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.57
- CADD 24.40
- PolyPhen-2 0.17
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; KCNA2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)