F23I (p.Phe23Ile) variant of ACTA2 (Actin, aortic smooth muscle)
F23I (p.Phe23Ile) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
F23I (p.Phe23Ile) variant details
- p.Phe23Ile
- rs1589400425
- ClinGen CA377513711
- ClinVar RCV001001351
- Ensembl rs1589400425
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.81
- EVE 0.45
- MutPred 0.88
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available