I21M (p.Ile21Met) variant of BRCA1 (P38398)
I21M (p.Ile21Met) 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 0.70 / 1. The record also includes experimental measurements, published literature, and structural context.
I21M (p.Ile21Met) variant details
- p.Ile21Met
- rs1555600921
- ClinGen CA10602029
- ClinVar RCV001072388
- ClinVar RCV001862477
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 0.47
- MetaLR 0.72
- MetaSVM 0.42
- PolyPhen-2 0.49
- SIFT 0.03
- EVE 0.82
- EBI: Likely benign
- UniProt: Likely benign
- 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)