S6N (p.Ser6Asn) variant of CDC73 (Parafibromin)
S6N (p.Ser6Asn) in CDC73 (Parafibromin) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- rs775940851
- ClinGen CA1303240
- ClinVar RCV002407885
- ExAC rs775940851
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.59
- AlphaMissense 0.84
- MetaLR 0.67
- MetaSVM 0.41
- CADD 27.70
- PolyPhen-2 0.82
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)