M1I (p.Met1Ile) variant of RECQL4 (ATP-dependent DNA helicase Q4)
M1I (p.Met1Ile) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1815451127
- ClinGen CA372694045
- ClinVar RCV002985503
- ClinGen CA372694041
- Uncertain significance
- Inborn genetic diseases
- Missense
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)