A17S (p.Ala17Ser) variant of BRCA1 (P38398)
A17S (p.Ala17Ser) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- rs1402064476
- ClinGen CA10602059
- ClinVar RCV000580266
- ClinVar RCV001078131
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.98
- MetaLR 0.53
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.82
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.598
- 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)