P104R (p.Pro104Arg) variant of ACTC1 (Actin, alpha cardiac muscle 1)
P104R (p.Pro104Arg) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
P104R (p.Pro104Arg) variant details
- p.Pro104Arg
- TOPMed rs1405829098
- gnomAD rs1405829098
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.95
- MetaLR 0.97
- MetaSVM 1.07
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available