A4P (p.Ala4Pro) variant of PMS2 (P54278)
A4P (p.Ala4Pro) 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; Lynch syndrome 4; Hereditary nonpolypos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- rs1786257764
- ClinGen CA366745241
- ClinVar RCV001223801
- ClinVar RCV004570541
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Lynch syndrome 4; Hereditary nonpolypos
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.10
- MetaLR 0.38
- MetaSVM -0.63
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Lynch syndrome 4; Hered)
- 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)
- Cited in: Lynch Syndrome. (PMID 20301390)