G20S (p.Gly20Ser) variant of TMEM127 (Transmembrane protein 127)
G20S (p.Gly20Ser) 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 not provided; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs1343615968
- ClinGen CA347656202
- ClinVar RCV001344508
- ClinVar RCV003478789
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.21
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)