A16D (p.Ala16Asp) variant of MYL3 (Myosin light chain 3)
A16D (p.Ala16Asp) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD 3-46863344-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.29
- CADD 9.71
- PolyPhen-2 0.09
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available