E37D (p.Glu37Asp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E37D (p.Glu37Asp) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E37D (p.Glu37Asp) variant details
- p.Glu37Asp
- Ensembl rs2130743551
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0899
- CADD 4.32
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available