D3H (p.Asp3His) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D3H (p.Asp3His) in ACTC1 (Actin, alpha cardiac muscle 1) 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 0.69 / 1. The record also includes structural context.
D3H (p.Asp3His) variant details
- p.Asp3His
- rs397517069
- ClinGen CA019928
- ClinVar RCV000038338
- Ensembl rs397517069
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- AlphaMissense 0.59
- MetaLR 0.75
- MetaSVM 0.52
- PolyPhen-2 0.17
- MutPred 0.38
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available