L61F (p.Leu61Phe) variant of POT1 (Q9NUX5)
L61F (p.Leu61Phe) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L61F (p.Leu61Phe) variant details
- p.Leu61Phe
- rs1795853989
- ClinGen CA369061540
- ClinVar RCV001202199
- ClinVar RCV004033528
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.11
- CADD 19.80
- PolyPhen-2 0.09
- SIFT 0.10
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-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)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)