N30H (p.Asn30His) variant of BRCA2 (P51587)
N30H (p.Asn30His) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
N30H (p.Asn30His) variant details
- p.Asn30His
- rs1253463092
- ClinGen CA387754087
- ClinVar RCV000574736
- ClinVar RCV001338114
- Uncertain significance
- Missense
- REVEL 0.09
- AlphaMissense 0.17
- MetaLR 0.01
- MetaSVM -0.87
- CADD 23.60
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)