K18R (p.Lys18Arg) variant of POT1 (Q9NUX5)
K18R (p.Lys18Arg) 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; Tumor predisposition syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- rs1584792012
- ClinGen CA369066178
- ClinVar RCV001024034
- ClinVar RCV003746579
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.18
- CADD 27.30
- PolyPhen-2 0.86
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tumor predisposition sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-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)