D82G (p.Asp82Gly) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D82G (p.Asp82Gly) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D82G (p.Asp82Gly) variant details
- p.Asp82Gly
- gnomAD 15-34793454-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available