R43L (p.Arg43Leu) variant of FH (P07954)
R43L (p.Arg43Leu) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- rs2147926825
- ClinGen CA345442622
- ClinVar RCV002552865
- Ensembl rs2147926825
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.55
- AlphaMissense 0.17
- MetaLR 0.90
- MetaSVM 0.95
- CADD 23.90
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available