M28K (p.Met28Lys) variant of BRIP1 (Fanconi anemia group J protein)
M28K (p.Met28Lys) in BRIP1 (Fanconi anemia group J protein) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
M28K (p.Met28Lys) variant details
- p.Met28Lys
- rs786202674
- ClinGen CA193792
- ClinVar RCV000165601
- ClinVar RCV001064592
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.59
- CADD 27.90
- PolyPhen-2 0.79
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)