D6G (p.Asp6Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D6G (p.Asp6Gly) 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 0.27 / 1. The record also includes population frequency data and structural context.
D6G (p.Asp6Gly) variant details
- p.Asp6Gly
- Ensembl rs1815445943
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 15.90
- PolyPhen-2 0.09
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available