K21R (p.Lys21Arg) variant of PMS2 (P54278)
K21R (p.Lys21Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
K21R (p.Lys21Arg) variant details
- p.Lys21Arg
- rs1458424619
- ClinGen CA366745134
- ClinVar RCV001181206
- TOPMed rs1458424619
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.14
- MetaLR 0.67
- MetaSVM 0.10
- PolyPhen-2 0.86
- SIFT 0.18
- EVE 0.47
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)