K57Q (p.Lys57Gln) variant of ABCC2 (Q92887)
K57Q (p.Lys57Gln) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dubin-Johnson syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K57Q (p.Lys57Gln) variant details
- p.Lys57Gln
- rs145346144
- ClinGen CA5642793
- ClinVar RCV001105714
- ClinVar RCV004649456
- Uncertain significance
- Dubin-Johnson syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Dubin-Johnson syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)