I3V (p.Ile3Val) variant of BRCA2 (P51587)
I3V (p.Ile3Val) 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.
I3V (p.Ile3Val) variant details
- p.Ile3Val
- rs770479195
- ClinGen CA6940305
- ClinVar RCV000222062
- ClinVar RCV000536609
- Uncertain significance
- Missense
- REVEL 0.04
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)