E10A (p.Glu10Ala) variant of PMS2 (P54278)
E10A (p.Glu10Ala) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E10A (p.Glu10Ala) variant details
- p.Glu10Ala
- rs878854050
- ClinGen CA10582533
- NCI-TCGA Cosmic COSV9976
- cosmic curated COSV99763
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.44
- AlphaMissense 0.08
- MetaLR 0.68
- MetaSVM 0.24
- CADD 24.20
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)