L28V (p.Leu28Val) variant of BRCA1 (P38398)
L28V (p.Leu28Val) 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 0.73 / 1. The record also includes experimental measurements, published literature, and structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- rs1219301058
- ClinGen CA10601988
- ClinVar RCV001027380
- ClinVar RCV001076550
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.59
- MetaLR 0.71
- MetaSVM 0.34
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- EBI: Likely benign
- UniProt: Likely benign
- 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)