A14V (p.Ala14Val) variant of PMS2 (P54278)
A14V (p.Ala14Val) 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; not provided; Hereditary nonpolyposis c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs750524554
- ClinGen CA16618546
- ClinVar RCV000483071
- ClinVar RCV001035359
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Hereditary nonpolyposis c
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.10
- MetaLR 0.57
- MetaSVM 0.05
- PolyPhen-2 0.13
- SIFT 0.13
- EVE 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- 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)