I42V (p.Ile42Val) variant of MYL3 (Myosin light chain 3)
I42V (p.Ile42Val) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- TOPMed rs1322033572
- gnomAD rs1322033572
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.22
- CADD 4.94
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available