R3L (p.Arg3Leu) variant of PMS2 (P54278)
R3L (p.Arg3Leu) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- rs375507981
- ClinGen CA052196
- ClinVar RCV000696078
- ClinVar RCV001177038
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.36
- CADD 5.32
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- 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)