R20W (p.Arg20Trp) variant of PMS2 (P54278)
R20W (p.Arg20Trp) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- rs573374779
- ClinGen CA050487
- cosmic curated COSV56151
- ClinVar RCV000198784
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.58
- CADD 26.10
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Benign (in LYNCH4)
- UniProt: Benign (in LYNCH4)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)