I26T (p.Ile26Thr) variant of BRCA1 (P38398)
I26T (p.Ile26Thr) 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 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- rs879255496
- ClinGen CA10602004
- ClinVar RCV001061570
- ClinVar RCV001076506
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.81
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.82
- CADD 26.60
- PolyPhen-2 0.99
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -1.3
- 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)