K16E (p.Lys16Glu) variant of PMS2 (P54278)
K16E (p.Lys16Glu) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified; Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K16E (p.Lys16Glu) variant details
- p.Lys16Glu
- rs777845808
- ClinGen CA049915
- ClinVar RCV000221254
- ClinVar RCV000599996
- Uncertain significance
- not provided; not specified; Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.64
- CADD 25.10
- PolyPhen-2 0.74
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; not specified; Hereditary nonpolyposis colorectal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)