F54V (p.Phe54Val) variant of MYL3 (Myosin light chain 3)
F54V (p.Phe54Val) 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 and structural context.
F54V (p.Phe54Val) variant details
- p.Phe54Val
- ExAC rs775106506
- gnomAD rs775106506
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.88
- CADD 29.70
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available