Q25H (p.Gln25His) variant of PMS2 (P54278)
Q25H (p.Gln25His) 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 colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
Q25H (p.Gln25His) variant details
- p.Gln25His
- rs1554306525
- ClinGen CA366745109
- ClinVar RCV000584040
- ClinVar RCV000765970
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.36
- MetaLR 0.70
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.58
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely benign
- UniProt: Likely benign
- 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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)