Q30E (p.Gln30Glu) variant of PMS2 (P54278)
Q30E (p.Gln30Glu) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q30E (p.Gln30Glu) variant details
- p.Gln30Glu
- rs141577476
- ClinGen CA366745083
- cosmic curated COSV10584
- ClinVar RCV001185928
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.50
- AlphaMissense 0.81
- MetaLR 0.61
- MetaSVM 0.27
- CADD 25.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)