G29R (p.Gly29Arg) variant of PMS2 (P54278)
G29R (p.Gly29Arg) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- rs1583419271
- ClinGen CA366745088
- ClinVar RCV001018079
- ClinVar RCV001046681
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.97
- MetaLR 0.60
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)