E37K (p.Glu37Lys) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E37K (p.Glu37Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs1395545206
- ClinGen CA372693403
- ClinVar RCV001040386
- TOPMed rs1395545206
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 24.80
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)