P34L (p.Pro34Leu) variant of POT1 (Q9NUX5)
P34L (p.Pro34Leu) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Tumor predisposition syndrome 3. The record also includes published literature and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs1796390766
- ClinGen CA369066016
- NCI-TCGA Cosmic COSV6293
- ClinVar RCV002268725
- Uncertain significance
- not specified; Tumor predisposition syndrome 3
- Missense
- ClinVar: Uncertain significance (not specified; Tumor predisposition syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)