D12Y (p.Asp12Tyr) variant of MYL3 (Myosin light chain 3)
D12Y (p.Asp12Tyr) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D12Y (p.Asp12Tyr) variant details
- p.Asp12Tyr
- gnomAD 3-46863357-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.23
- CADD 22.60
- PolyPhen-2 0.08
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available