E36K (p.Glu36Lys) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E36K (p.Glu36Lys) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Baller-Gerold syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- rs1815402122
- ClinGen CA372693422
- ClinVar RCV003616013
- ClinVar RCV005475418
- Uncertain significance
- Baller-Gerold syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 23.50
- PolyPhen-2 0.75
- SIFT 0.01
- ClinVar: Uncertain significance (Baller-Gerold syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)