M1L (p.Met1Leu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
M1L (p.Met1Leu) 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 Baller-Gerold syndrome. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs964623569
- ClinGen CA187691376
- ClinVar RCV001361919
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)