G346D (p.Gly346Asp) variant of FH (P07954)
G346D (p.Gly346Asp) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fumarase deficiency; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
G346D (p.Gly346Asp) variant details
- p.Gly346Asp
- rs2147916135
- ClinGen CA345438173
- ClinVar RCV001780293
- Ensembl rs2147916135
- Pathogenic/Likely pathogenic
- Fumarase deficiency; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Fumarase deficiency; Hereditary cancer-predisposing syndrome; no)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available