H318L (p.His318Leu) variant of FH (P07954)
H318L (p.His318Leu) 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 cancer-predisposing syndrome; not provided; Fumarase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
H318L (p.His318Leu) variant details
- p.His318Leu
- rs755449276
- ClinGen CA1478568
- ClinVar RCV001780294
- ExAC rs755449276
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Fumarase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.96
- CADD 27.20
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Fumarase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available