A32P (p.Ala32Pro) variant of TMEM127 (Transmembrane protein 127)
A32P (p.Ala32Pro) 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 0.39 / 1. The record also includes published literature and structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- rs770347064
- ClinGen CA347656125
- ClinVar RCV002374138
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.45
- MetaLR 0.32
- MetaSVM -0.50
- PolyPhen-2 0.56
- SIFT 0.29
- EVE 0.16
- 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)