I26S (p.Ile26Ser) variant of BRCA1 (P38398)
I26S (p.Ile26Ser) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes experimental measurements, published literature, and structural context.
I26S (p.Ile26Ser) variant details
- p.Ile26Ser
- rs879255496
- ClinGen CA10602003
- ClinVar RCV001076507
- Ensembl rs879255496
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.88
- CADD 28.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -2.67
- 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)