E15G (p.Glu15Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E15G (p.Glu15Gly) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E15G (p.Glu15Gly) variant details
- p.Glu15Gly
- NCI-TCGA TCGA novel
- Ensembl rs2130745850
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available