M1V (p.Met1Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
M1V (p.Met1Val) 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 not provided. The record also includes variant effect predictions and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs964623569
- ClinGen CA372694054
- ClinVar RCV003130396
- Uncertain significance
- not provided
- Missense
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available