A32P (p.Ala32Pro) variant of FH (P07954)
A32P (p.Ala32Pro) 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 0.63 / 1. The record also includes structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- rs1371664717
- ClinGen CA345442724
- ClinVar RCV003736304
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.09
- MetaLR 0.87
- MetaSVM 0.64
- PolyPhen-2 0.01
- SIFT 0.31
- MutPred 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available