S17I (p.Ser17Ile) variant of TMEM127 (Transmembrane protein 127)
S17I (p.Ser17Ile) 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; Pheochromocytoma; Hereditary pheochromo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S17I (p.Ser17Ile) variant details
- p.Ser17Ile
- rs1223613323
- ClinGen CA347656221
- ClinVar RCV000812977
- ClinVar RCV003166321
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Hereditary pheochromo
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.18
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Hered)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.7e-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: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)