I15V (p.Ile15Val) variant of BRCA1 (P38398)
I15V (p.Ile15Val) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- rs80357031
- ClinGen CA10602074
- ClinVar RCV001072363
- ClinVar RCV001224243
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.44
- AlphaMissense 0.09
- MetaLR 0.20
- MetaSVM -0.85
- CADD 21.70
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score 0.0141
- 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)