R20P (p.Arg20Pro) variant of PMS2 (P54278)
R20P (p.Arg20Pro) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R20P (p.Arg20Pro) variant details
- p.Arg20Pro
- rs10254120
- ClinGen CA10578731
- ClinVar RCV000219300
- ClinVar RCV002229322
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- AlphaMissense 0.18
- MetaLR 0.65
- MetaSVM 0.18
- PolyPhen-2 0.88
- SIFT 0.06
- EVE 0.56
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Benign (in LYNCH4)
- UniProt: Benign (in LYNCH4)
- Population evidence available
- 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)