N20S (p.Asn20Ser) variant of BRCA2 (P51587)
N20S (p.Asn20Ser) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- rs1593880798
- ClinGen CA915946921
- ClinVar RCV001024551
- Ensembl rs1593880798
- Pathogenic
- Missense
- REVEL 0.06
- CADD 2.61
- PolyPhen-2 0.02
- SIFT 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)