P4T (p.Pro4Thr) variant of TMEM127 (Transmembrane protein 127)
P4T (p.Pro4Thr) 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 0.58 / 1. The record also includes published literature and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- rs1024081498
- ClinGen CA347656346
- ClinVar RCV002430813
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 0.07
- MetaLR 0.80
- MetaSVM 0.47
- PolyPhen-2 0.05
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)