A2T (p.Ala2Thr) variant of MYL3 (Myosin light chain 3)
A2T (p.Ala2Thr) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 3-46863387-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.46
- CADD 22.70
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available