M18T (p.Met18Thr) variant of BRCA1 (P38398)
M18T (p.Met18Thr) 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 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M18T (p.Met18Thr) variant details
- p.Met18Thr
- rs80356929
- ClinGen CA003550
- ClinVar RCV000031245
- ClinVar RCV000131693
- Pathogenic
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.77
- AlphaMissense 0.97
- MetaLR 0.64
- MetaSVM 0.30
- CADD 25.40
- PolyPhen-2 0.97
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.148
- Cited in: A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2… (PMID 17924331)
- Cited in: A high-throughput functional complementation assay for classification of BRCA1 missense variants. (PMID 23867111)