S33L (p.Ser33Leu) variant of TMEM127 (Transmembrane protein 127)
S33L (p.Ser33Leu) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S33L (p.Ser33Leu) variant details
- p.Ser33Leu
- rs1573977887
- ClinGen CA347656116
- cosmic curated COSV51498
- ClinVar RCV001019874
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)