T9I (p.Thr9Ile) variant of PMS2 (P54278)
T9I (p.Thr9Ile) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- rs1210073386
- ClinGen CA366745199
- ClinVar RCV000546264
- ClinVar RCV000567566
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.12
- MetaLR 0.66
- MetaSVM 0.06
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.19
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)