L36F (p.Leu36Phe) variant of BRIP1 (Fanconi anemia group J protein)
L36F (p.Leu36Phe) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L36F (p.Leu36Phe) variant details
- p.Leu36Phe
- rs774586397
- ClinGen CA8690992
- ClinVar RCV000215935
- ClinVar RCV000636168
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.40
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- 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)