L36S (p.Leu36Ser) variant of BRIP1 (Fanconi anemia group J protein)
L36S (p.Leu36Ser) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
L36S (p.Leu36Ser) variant details
- p.Leu36Ser
- rs1060501767
- ClinGen CA16615847
- ClinVar RCV000460801
- Ensembl rs1060501767
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.96
- MetaLR 0.41
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Familial cancer of breast; Fanconi anemia complementation group)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)