R18H (p.Arg18His) variant of BRCA2 (P51587)
R18H (p.Arg18His) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions, population frequency data, and published literature.
R18H (p.Arg18His) variant details
- p.Arg18His
- rs80358762
- ClinGen CA022238
- cosmic curated COSV61525
- ClinVar RCV000044652
- Benign
- Missense
- REVEL 0.07
- AlphaMissense 0.78
- MetaLR 0.01
- MetaSVM -1.01
- CADD 24.60
- PolyPhen-2 0.76
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)