K21N (p.Lys21Asn) variant of PMS2 (P54278)
K21N (p.Lys21Asn) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K21N (p.Lys21Asn) variant details
- p.Lys21Asn
- rs772643900
- ClinGen CA366745132
- ClinVar RCV001025229
- ClinVar RCV001873393
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.56
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)