S4C (p.Ser4Cys) variant of BRCA1 (P38398)
S4C (p.Ser4Cys) 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 0.70 / 1. The record also includes experimental measurements, published literature, and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- rs786203152
- ClinGen CA10602136
- cosmic curated COSV58791
- ClinVar RCV001072309
- Uncertain significance
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 0.23
- MetaLR 0.82
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.78
- EBI: Variant of uncertain significance (in BC)
- UniProt: Uncertain significance (in BC)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.336
- 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)