T52A (p.Thr52Ala) variant of RECQL4 (ATP-dependent DNA helicase Q4)
T52A (p.Thr52Ala) 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 0.07 / 1. The record also includes population frequency data and structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- TOPMed rs1331238003
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0721
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available