E101Q (p.Glu101Gln) variant of ACTC1 (Actin, alpha cardiac muscle 1)
E101Q (p.Glu101Gln) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E101Q (p.Glu101Gln) variant details
- p.Glu101Gln
- gnomAD 15-34793398-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.80
- MetaLR 0.93
- MetaSVM 1.03
- CADD 27.60
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available