G23W (p.Gly23Trp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
G23W (p.Gly23Trp) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G23W (p.Gly23Trp) variant details
- p.Gly23Trp
- ExAC rs752845462
- gnomAD rs752845462
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available