A5G (p.Ala5Gly) variant of BRCA1 (P38398)
A5G (p.Ala5Gly) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- rs80357287
- ClinGen CA001332
- NCI-TCGA Cosmic COSV5879
- ClinVar RCV000077503
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- MetaLR 0.65
- MetaSVM 0.35
- CADD 23.60
- EVE 0.86
- MutPred 0.99
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: American Society of Clinical Oncology 2007 update of recommendations for the use of tumor markers in breast cancer. (PMID 17954709)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)