S4F (p.Ser4Phe) variant of BRCA1 (P38398)
S4F (p.Ser4Phe) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in BC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- rs786203152
- ClinGen CA000789
- ClinVar RCV000166336
- ClinVar RCV000662889
- Uncertain significance
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.63
- AlphaMissense 0.23
- MetaLR 0.82
- MetaSVM 0.66
- CADD 24.20
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance (in BC)
- UniProt: Uncertain significance (in BC)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.336
- Cited in: A high-throughput functional complementation assay for classification of BRCA1 missense variants. (PMID 23867111)
- Cited in: Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. (PMID 10323242)