M1I (p.Met1Ile) variant of POT1 (Q9NUX5)
M1I (p.Met1Ile) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tumor predisposition syndrome 3. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2485575164
- ClinGen CA369066372
- ClinVar RCV003746987
- Uncertain significance
- Tumor predisposition syndrome 3
- Missense
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)