G53D (p.Gly53Asp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
G53D (p.Gly53Asp) 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 0.10 / 1. The record also includes population frequency data and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- Ensembl rs1381844543
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.097
- CADD 3.87
- PolyPhen-2 0.02
- SIFT 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available