M1T (p.Met1Thr) variant of POT1 (Q9NUX5)
M1T (p.Met1Thr) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tumor predisposition syndrome 3. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2116643224
- ClinGen CA369066376
- ClinVar RCV002014245
- Pathogenic
- Tumor predisposition syndrome 3
- Missense
- ClinVar: Pathogenic (Tumor predisposition syndrome 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)