P17R (p.Pro17Arg) variant of PMS2 (P54278)
P17R (p.Pro17Arg) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- rs1554306578
- ClinGen CA366745153
- ClinVar RCV002335983
- ClinVar RCV003594217
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.25
- MetaLR 0.76
- MetaSVM 0.45
- PolyPhen-2 0.48
- SIFT 0.01
- EVE 0.74
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- 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)