L37I (p.Leu37Ile) variant of POT1 (Q9NUX5)
L37I (p.Leu37Ile) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L37I (p.Leu37Ile) variant details
- p.Leu37Ile
- rs2485562499
- ClinGen CA369065997
- ClinVar RCV003177015
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.05
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)