A32G (p.Ala32Gly) variant of FH (P07954)
A32G (p.Ala32Gly) 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.
A32G (p.Ala32Gly) variant details
- p.Ala32Gly
- rs2147926910
- ClinGen CA345442722
- ClinVar RCV002274525
- Ensembl rs2147926910
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.10
- MetaLR 0.89
- MetaSVM 0.73
- PolyPhen-2 0.01
- SIFT 0.17
- MutPred 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available