A57T (p.Ala57Thr) variant of MYL3 (Myosin light chain 3)
A57T (p.Ala57Thr) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- gnomAD 3-46860814-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.60
- CADD 24.50
- PolyPhen-2 0.65
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available