T47A (p.Thr47Ala) variant of RECQL4 (ATP-dependent DNA helicase Q4)
T47A (p.Thr47Ala) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- ExAC rs779041769
- TOPMed rs779041769
- gnomAD rs779041769
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 0.22
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available