A4D (p.Ala4Asp) variant of PMS2 (P54278)
A4D (p.Ala4Asp) 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 0.44 / 1. The record also includes published literature and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- rs745361721
- ClinGen CA366745238
- ClinVar RCV001805349
- ExAC rs745361721
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.12
- MetaLR 0.43
- MetaSVM -0.58
- PolyPhen-2 0.34
- SIFT 0.01
- MutPred 0.06
- 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)