T12A (p.Thr12Ala) variant of POT1 (Q9NUX5)
T12A (p.Thr12Ala) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T12A (p.Thr12Ala) variant details
- p.Thr12Ala
- rs1330070498
- ClinGen CA369066248
- ClinVar RCV002459125
- gnomAD rs1330070498
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.29
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- 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)