G53R (p.Gly53Arg) variant of RECQL4 (ATP-dependent DNA helicase Q4)
G53R (p.Gly53Arg) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- gnomAD rs1171989536
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0678
- CADD 0.30
- PolyPhen-2 0.01
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available