G23R (p.Gly23Arg) variant of RECQL4 (ATP-dependent DNA helicase Q4)
G23R (p.Gly23Arg) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- ExAC rs752845462
- gnomAD rs752845462
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 17.70
- PolyPhen-2 0.40
- SIFT 0.72
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available