R117C (p.Arg117Cys) variant of POT1 (Q9NUX5)
R117C (p.Arg117Cys) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R117C (p.Arg117Cys) variant details
- p.Arg117Cys
- rs780936436
- ClinGen CA4465453
- ClinVar RCV000543907
- ClinVar RCV001755900
- Conflicting interpretations
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.39
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Long telomere syndrome; Tumor predisposition syndrome 3; Heredit)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)