S21N (p.Ser21Asn) variant of TMEM127 (Transmembrane protein 127)
S21N (p.Ser21Asn) 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; not provided; Hereditary pheochromocyto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S21N (p.Ser21Asn) variant details
- p.Ser21Asn
- rs1348645128
- ClinGen CA347656193
- ClinVar RCV000563807
- ClinVar RCV000706462
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.26
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)