M1K (p.Met1Lys) variant of GATA6 (Transcription factor GATA-6)
M1K (p.Met1Lys) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrioventricular septal defect 5. The record also includes population frequency data and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs2510624920
- ClinGen CA401798262
- ClinVar RCV003529484
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available