I26M (p.Ile26Met) variant of BRCA1 (P38398)
I26M (p.Ile26Met) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes experimental measurements, published literature, and structural context.
I26M (p.Ile26Met) variant details
- p.Ile26Met
- rs1555600862
- ClinGen CA10602002
- ClinVar RCV001076509
- ClinVar RCV005782093
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.83
- MetaLR 0.77
- MetaSVM 0.31
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.87
- EBI: Likely benign
- UniProt: Likely benign
- 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)