A16T (p.Ala16Thr) variant of MYL3 (Myosin light chain 3)
A16T (p.Ala16Thr) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD 3-46863345-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.25
- CADD 11.60
- PolyPhen-2 0.01
- SIFT 0.91
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available