R7L (p.Arg7Leu) variant of BRCA1 (P38398)
R7L (p.Arg7Leu) 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 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- rs144792613
- ClinGen CA10602121
- cosmic curated COSV58793
- ClinVar RCV001014438
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.44
- MetaSVM -0.45
- CADD 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -1.18
- 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)