R14Q (p.Arg14Gln) variant of TMEM127 (Transmembrane protein 127)
R14Q (p.Arg14Gln) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- rs2104308364
- ClinGen CA347656253
- ClinVar RCV003216542
- Ensembl rs2104308364
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.26
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- 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)