I21L (p.Ile21Leu) variant of BRCA1 (P38398)
I21L (p.Ile21Leu) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 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
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.64
- MetaSVM 0.15
- CADD 22.80
- EVE 0.85
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -2.06
- 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)