R3Q (p.Arg3Gln) variant of PMS2 (P54278)
R3Q (p.Arg3Gln) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mismatch repair cancer syndrome 4; Lynch syndrome 4; Hereditary nonpolyposis col. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs375507981
- ClinGen CA052177
- NCI-TCGA Cosmic COSV5615
- cosmic curated COSV56150
- Uncertain significance
- Mismatch repair cancer syndrome 4; Lynch syndrome 4; Hereditary nonpolyposis col
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.38
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Mismatch repair cancer syndrome 4; Lynch syndrome 4; Hereditary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)