F54S (p.Phe54Ser) variant of MYL3 (Myosin light chain 3)
F54S (p.Phe54Ser) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
F54S (p.Phe54Ser) variant details
- p.Phe54Ser
- gnomAD 3-46860822-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.87
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available