M18L (p.Met18Leu) variant of BRCA1 (P38398)
M18L (p.Met18Leu) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in BC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes experimental measurements, published literature, and structural context.
M18L (p.Met18Leu) variant details
- p.Met18Leu
- rs2055727017
- ClinGen CA10602055
- ClinVar RCV001072372
- ClinVar RCV004031172
- Likely benign
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- ESM-1b 0.49
- AlphaMissense 0.49
- MetaLR 0.39
- MetaSVM -0.16
- CADD 22.40
- EVE 0.72
- EBI: Likely benign (in BC)
- UniProt: Likely benign (in BC)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -4.66
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)