E2V (p.Glu2Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E2V (p.Glu2Val) 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 0.47 / 1. The record also includes population frequency data and structural context.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- Ensembl rs2130746663
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available