V8L (p.Val8Leu) variant of BRCA1 (P38398)
V8L (p.Val8Leu) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- rs528902306
- ClinGen CA10602120
- ClinVar RCV001076435
- 1000Genomes rs528902306
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.09
- MetaLR 0.28
- MetaSVM -0.77
- PolyPhen-2 0.03
- SIFT 1.00
- EVE 0.10
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.69
- 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)