F12V (p.Phe12Val) variant of BRCA2 (P51587)
F12V (p.Phe12Val) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
F12V (p.Phe12Val) variant details
- p.Phe12Val
- rs80358597
- ClinGen CA018197
- ClinVar RCV000077304
- ClinVar RCV000129690
- Likely benign
- Missense
- REVEL 0.11
- CADD 27.50
- PolyPhen-2 0.56
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)