M26L (p.Met26Leu) variant of BARD1 (Q99728)
M26L (p.Met26Leu) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M26L (p.Met26Leu) variant details
- p.Met26Leu
- rs587781570
- ClinGen CA350465148
- ClinVar RCV001241839
- 1000Genomes rs587781570
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.47
- CADD 22.90
- PolyPhen-2 0.50
- SIFT 0.19
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)