M1T (p.Met1Thr) variant of RECQL4 (ATP-dependent DNA helicase Q4)
M1T (p.Met1Thr) 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; Inborn genetic diseases. The record also includes variant effect predictions, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1815451689
- ClinGen CA372694048
- ClinVar RCV001371292
- Uncertain significance
- Baller-Gerold syndrome; Inborn genetic diseases
- Missense
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)