I14M (p.Ile14Met) variant of BRCA2 (P51587)
I14M (p.Ile14Met) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
I14M (p.Ile14Met) variant details
- p.Ile14Met
- rs2138698375
- ClinGen CA387753032
- ClinVar RCV001804317
- Ensembl rs2138698375
- Uncertain significance
- Missense
- REVEL 0.11
- CADD 25.30
- PolyPhen-2 0.91
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)