G37V (p.Gly37Val) variant of TMEM127 (Transmembrane protein 127)
G37V (p.Gly37Val) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G37V (p.Gly37Val) variant details
- p.Gly37Val
- rs1684393209
- ClinGen CA347656095
- ClinVar RCV003380268
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.67
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)