L28R (p.Leu28Arg) variant of BRCA1 (P38398)
L28R (p.Leu28Arg) 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.
L28R (p.Leu28Arg) variant details
- p.Leu28Arg
- rs80357266
- ClinGen CA10601986
- ClinVar RCV001076553
- Ensembl rs80357266
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 0.77
- MetaLR 0.80
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRCA1 SGE Exon 3 Replicate 2: score -0.542
- 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)