S4A (p.Ser4Ala) variant of BRCA1 (P38398)
S4A (p.Ser4Ala) 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 0.63 / 1. The record also includes experimental measurements, published literature, and structural context.
S4A (p.Ser4Ala) variant details
- p.Ser4Ala
- rs876658707
- ClinGen CA10602138
- ClinVar RCV001072307
- TOPMed rs876658707
- Likely benign
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- AlphaMissense 0.08
- MetaLR 0.78
- MetaSVM 0.53
- PolyPhen-2 0.98
- SIFT 0.13
- EVE 0.67
- EBI: Likely benign (in BC)
- UniProt: Likely benign (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)