R15W (p.Arg15Trp) variant of TMEM127 (Transmembrane protein 127)
R15W (p.Arg15Trp) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R15W (p.Arg15Trp) variant details
- p.Arg15Trp
- rs1684395770
- ClinGen CA347656247
- ClinVar RCV002333723
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.61
- CADD 32.00
- PolyPhen-2 0.72
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)