A14T (p.Ala14Thr) variant of PMS2 (P54278)
A14T (p.Ala14Thr) 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 0.49 / 1. The record also includes published literature and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs876661039
- ClinGen CA366745171
- ClinVar RCV002323330
- Ensembl rs876661039
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM -0.02
- PolyPhen-2 0.22
- SIFT 0.21
- EVE 0.41
- 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)