E9V (p.Glu9Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E9V (p.Glu9Val) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- Ensembl rs2130746264
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 6.25
- PolyPhen-2 0.20
- SIFT 1.00
- Population evidence available
- Structural context available