E36A (p.Glu36Ala) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E36A (p.Glu36Ala) 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 0.35 / 1. The record also includes population frequency data and structural context.
E36A (p.Glu36Ala) variant details
- p.Glu36Ala
- TOPMed rs1815401805
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 24.90
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available