E9G (p.Glu9Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E9G (p.Glu9Gly) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- Ensembl rs2130746264
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available