A110T (p.Ala110Thr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A110T (p.Ala110Thr) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
A110T (p.Ala110Thr) variant details
- p.Ala110Thr
- rs1057523500
- ClinGen CA16607773
- ClinVar RCV000445116
- Ensembl rs1057523500
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.83
- EVE 0.31
- MutPred 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available