M18I (p.Met18Ile) variant of BRCA1 (P38398)
M18I (p.Met18Ile) 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 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M18I (p.Met18Ile) variant details
- p.Met18Ile
- rs1597923450
- ClinGen CA10602049
- ClinVar RCV001076478
- ClinVar RCV005401726
- Likely benign
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.49
- MetaSVM 0.03
- CADD 23.60
- EBI: Likely benign (in BC)
- UniProt: Likely benign (in BC)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -4.66
- 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)