I26T (p.Ile26Thr) variant of PMS2 (P54278)
I26T (p.Ile26Thr) 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 0.93 / 1. The record also includes published literature and structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- rs1583419301
- ClinGen CA366745104
- ClinVar RCV001026827
- ClinVar RCV001232308
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- 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)