F312L (p.Phe312Leu) variant of FH (P07954)
F312L (p.Phe312Leu) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary leiomyomatosis and renal cell cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
F312L (p.Phe312Leu) variant details
- p.Phe312Leu
- rs2147916319
- ClinGen CA345438374
- ClinVar RCV002254382
- ClinVar RCV003094170
- Pathogenic/Likely pathogenic
- not provided; Hereditary leiomyomatosis and renal cell cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary leiomyomatosis and renal cell cancer)
- EBI: Pathogenic (in FMRD)
- UniProt: Pathogenic (in FMRD)
- Structural context available
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)