R29S (p.Arg29Ser) variant of TMEM127 (Transmembrane protein 127)
R29S (p.Arg29Ser) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- rs2104308107
- ClinGen CA347656144
- ClinVar RCV004522262
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.55
- CADD 25.00
- PolyPhen-2 0.60
- SIFT 0.09
- 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)