A20G (p.Ala20Gly) variant of FH (P07954)
A20G (p.Ala20Gly) 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.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- rs1573889953
- ClinGen CA345442917
- ClinVar RCV003714806
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 0.12
- MetaLR 0.87
- MetaSVM 0.73
- PolyPhen-2 0.01
- SIFT 0.62
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available