R12S (p.Arg12Ser) variant of FH (P07954)
R12S (p.Arg12Ser) 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 0.65 / 1. The record also includes structural context.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- rs199912971
- ClinGen CA345443012
- ClinVar RCV002579595
- TOPMed rs199912971
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.11
- MetaLR 0.89
- MetaSVM 0.77
- PolyPhen-2 0.00
- SIFT 0.37
- MutPred 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available