I10V (p.Ile10Val) variant of POT1 (Q9NUX5)
I10V (p.Ile10Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I10V (p.Ile10Val) variant details
- p.Ile10Val
- rs1584792042
- ClinGen CA369066272
- ClinVar RCV003585431
- ClinVar RCV005264424
- Conflicting interpretations
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0897
- REVEL 0.06
- CADD 8.60
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Conflicting classifications of pathogenicity (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- 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)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)