S40F (p.Ser40Phe) variant of MYL3 (Myosin light chain 3)
S40F (p.Ser40Phe) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S40F (p.Ser40Phe) variant details
- p.Ser40Phe
- gnomAD 3-46863272-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.36
- CADD 24.10
- PolyPhen-2 0.19
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available