R25G (p.Arg25Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R25G (p.Arg25Gly) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- Ensembl rs2130745290
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available