I15M (p.Ile15Met) variant of PMS2 (P54278)
I15M (p.Ile15Met) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
I15M (p.Ile15Met) variant details
- p.Ile15Met
- rs876660499
- ClinGen CA10578732
- ClinVar RCV000214488
- ClinVar RCV001854698
- Uncertain significance
- not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.85
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary nonpolyposis colorectal neoplasms; Here)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)