M18K (p.Met18Lys) variant of BRCA1 (P38398)
M18K (p.Met18Lys) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes experimental measurements, published literature, and structural context.
M18K (p.Met18Lys) variant details
- p.Met18Lys
- rs80356929
- ClinGen CA003549
- ClinVar RCV000111654
- ClinVar RCV000496411
- Pathogenic
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.62
- MetaSVM 0.25
- CADD 25.30
- EVE 0.87
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- 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)