I21V (p.Ile21Val) variant of BRCA1 (P38398)
I21V (p.Ile21Val) 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 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- rs80357406
- ClinGen CA003764
- ClinVar RCV000111663
- ClinVar RCV000131702
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.61
- AlphaMissense 0.49
- MetaLR 0.60
- MetaSVM 0.08
- CADD 18.60
- PolyPhen-2 0.49
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.0961
- 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)