G74R (p.Gly74Arg) variant of PMS2 (P54278)
G74R (p.Gly74Arg) 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 colon cancer; Lynch syndrome 4; Hereditary cancer-predis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
G74R (p.Gly74Arg) variant details
- p.Gly74Arg
- rs1554304979
- ClinGen CA366744818
- ClinVar RCV000545520
- ClinVar RCV000758691
- Uncertain significance
- Hereditary nonpolyposis colon cancer; Lynch syndrome 4; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.98
- MetaLR 0.79
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)