M1? variant of RECQL4 (ATP-dependent DNA helicase Q4)
M1? in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1? variant details
- rs1815451689
- ClinGen CA372694050
- ClinVar RCV001879105
- NCI-TCGA TCGA novel
- Uncertain significance
- Missense
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)