I18T (p.Ile18Thr) variant of PMS2 (P54278)
I18T (p.Ile18Thr) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in LYNCH4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- rs201343342
- ClinGen CA012293
- ClinVar RCV000034630
- ClinVar RCV000115698
- Benign
- in LYNCH4
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.94
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign (in LYNCH4)
- UniProt: Benign (in LYNCH4)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. (PMID 20205264)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)