L22F (p.Leu22Phe) variant of BRCA1 (P38398)
L22F (p.Leu22Phe) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in BC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes experimental measurements, published literature, and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- rs786202533
- ClinGen CA003790
- ClinVar RCV000165382
- ClinVar RCV001076493
- Likely benign
- in BC
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.81
- MetaLR 0.61
- MetaSVM 0.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- EBI: Likely benign (in BC)
- UniProt: Likely benign (in BC)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.415
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)