S4T (p.Ser4Thr) variant of BRCA1 (P38398)
S4T (p.Ser4Thr) 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 0.46 / 1. The record also includes experimental measurements, published literature, and structural context.
S4T (p.Ser4Thr) variant details
- p.Ser4Thr
- rs876658707
- ClinGen CA10602139
- ClinVar RCV001072305
- TOPMed rs876658707
- Likely benign
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.78
- MetaSVM 0.53
- CADD 15.63
- EVE 0.67
- EBI: Likely benign (in BC)
- UniProt: Likely benign (in BC)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -1.2
- 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)