A13E (p.Ala13Glu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
A13E (p.Ala13Glu) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- TOPMed rs1489214833
- gnomAD rs1489214833
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.13
- PolyPhen-2 0.06
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available