I71V (p.Ile71Val) variant of POT1 (Q9NUX5)
I71V (p.Ile71Val) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
I71V (p.Ile71Val) variant details
- p.Ile71Val
- rs776844142
- ClinGen CA4465487
- ClinVar RCV000527546
- ClinVar RCV000565840
- Conflicting interpretations
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.04
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)