I21L (p.Ile21Leu) variant of BRCA1 (P38398)
I21L (p.Ile21Leu) 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 0.60 / 1. The record also includes experimental measurements, published literature, and structural context.
I21L (p.Ile21Leu) variant details
- p.Ile21Leu
- rs80357406
- ClinGen CA10602034
- ClinVar RCV001077749
- ClinVar RCV004031210
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.49
- MetaLR 0.60
- MetaSVM 0.08
- PolyPhen-2 0.49
- SIFT 0.07
- EVE 0.66
- 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)