L107F (p.Leu107Phe) variant of ACTC1 (Actin, alpha cardiac muscle 1)
L107F (p.Leu107Phe) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
L107F (p.Leu107Phe) variant details
- p.Leu107Phe
- gnomAD 15-34793380-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.89
- MetaLR 0.97
- MetaSVM 1.07
- CADD 30.00
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available