I10M (p.Ile10Met) variant of POT1 (Q9NUX5)
I10M (p.Ile10Met) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
I10M (p.Ile10Met) variant details
- p.Ile10Met
- rs367937904
- ClinGen CA4465517
- ClinVar RCV001050587
- ClinVar RCV002280154
- Conflicting interpretations
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.0968
- REVEL 0.05
- CADD 13.70
- PolyPhen-2 0.04
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-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)