Y26C (p.Tyr26Cys) variant of POT1 (Q9NUX5)
Y26C (p.Tyr26Cys) 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; not specified; Hereditary cancer-predisposing s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Y26C (p.Tyr26Cys) variant details
- p.Tyr26Cys
- rs1197625483
- ClinGen CA369066118
- ClinVar RCV000532949
- ClinVar RCV002413630
- Uncertain significance
- Tumor predisposition syndrome 3; not specified; Hereditary cancer-predisposing s
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.43
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.10
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; not specified; Hereditary cance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)