E9K (p.Glu9Lys) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E9K (p.Glu9Lys) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Baller-Gerold syndrome; Rothmund-Thomson syndrome type 2; Inborn genetic disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs1035057882
- ClinGen CA187691308
- ClinVar RCV000634301
- ClinVar RCV001731822
- Conflicting interpretations
- Baller-Gerold syndrome; Rothmund-Thomson syndrome type 2; Inborn genetic disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 10.30
- PolyPhen-2 0.27
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Baller-Gerold syndrome; Rothmund-Thomson syndrome type 2; Inborn)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)