R12H (p.Arg12His) variant of FH (P07954)
R12H (p.Arg12His) 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 0.67 / 1. The record also includes structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- rs367826177
- ClinGen CA345443006
- ClinVar RCV002554321
- ESP rs367826177
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.12
- MetaLR 0.90
- MetaSVM 1.07
- PolyPhen-2 0.10
- SIFT 0.19
- MutPred 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available