S4P (p.Ser4Pro) variant of BRCA1 (P38398)
S4P (p.Ser4Pro) 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 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- rs876658707
- ClinGen CA10580715
- ClinVar RCV000216237
- ClinVar RCV000706715
- Likely benign
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.53
- AlphaMissense 0.08
- MetaLR 0.78
- MetaSVM 0.53
- CADD 12.80
- PolyPhen-2 0.98
- EBI: Likely benign (in BC)
- UniProt: Likely benign (in BC)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)