I27V (p.Ile27Val) variant of BRCA2 (P51587)
I27V (p.Ile27Val) 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.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- rs80359034
- ClinGen CA025394
- ClinVar RCV000113106
- ClinVar RCV000164869
- Benign
- Missense
- REVEL 0.06
- MetaLR 0.00
- MetaSVM -0.93
- CADD 9.43
- PolyPhen-2 0.01
- SIFT 0.16
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)