K13T (p.Lys13Thr) variant of PMS2 (P54278)
K13T (p.Lys13Thr) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
K13T (p.Lys13Thr) variant details
- p.Lys13Thr
- rs1785719173
- ClinGen CA366745176
- ClinVar RCV001189254
- Ensembl rs1785719173
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- AlphaMissense 0.12
- MetaLR 0.72
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.09
- EVE 0.47
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)