S30G (p.Ser30Gly) variant of TMEM127 (Transmembrane protein 127)
S30G (p.Ser30Gly) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S30G (p.Ser30Gly) variant details
- p.Ser30Gly
- rs763476625
- ClinGen CA16611134
- ClinVar RCV000466113
- ClinVar RCV000572003
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.48
- CADD 26.90
- PolyPhen-2 0.45
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)