I14V (p.Ile14Val) variant of BRCA2 (P51587)
I14V (p.Ile14Val) 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.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- rs886038198
- ClinGen CA10586675
- ClinVar RCV000241177
- ClinVar RCV002321921
- Uncertain significance
- Missense
- REVEL 0.11
- CADD 23.60
- PolyPhen-2 0.57
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)