I26V (p.Ile26Val) variant of BRCA1 (P38398)
I26V (p.Ile26Val) 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 0.84 / 1. The record also includes experimental measurements, published literature, and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- rs1597923170
- ClinGen CA10602006
- ClinVar RCV001072407
- Ensembl rs1597923170
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.92
- MetaLR 0.82
- MetaSVM 0.76
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)