L218P (p.Leu218Pro) variant of FH (P07954)
L218P (p.Leu218Pro) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary leiomyomatosis and renal cell cancer; Fumarase deficiency; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
L218P (p.Leu218Pro) variant details
- p.Leu218Pro
- rs1553341345
- ClinGen CA345439305
- ClinVar RCV002527735
- Ensembl rs1553341345
- Pathogenic/Likely pathogenic
- Hereditary leiomyomatosis and renal cell cancer; Fumarase deficiency; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (Hereditary leiomyomatosis and renal cell cancer; Fumarase defici)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available