P104T (p.Pro104Thr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
P104T (p.Pro104Thr) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P104T (p.Pro104Thr) variant details
- p.Pro104Thr
- gnomAD rs397517059
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.94
- AlphaMissense 0.61
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.40
- PolyPhen-2 0.98
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available