A13V (p.Ala13Val) variant of MYL3 (Myosin light chain 3)
A13V (p.Ala13Val) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 3-46863353-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.36
- CADD 21.30
- PolyPhen-2 0.28
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available