I51S (p.Ile51Ser) variant of MYL3 (Myosin light chain 3)
I51S (p.Ile51Ser) 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 0.68 / 1. The record also includes population frequency data and structural context.
I51S (p.Ile51Ser) variant details
- p.Ile51Ser
- ExAC rs749017586
- TOPMed rs749017586
- gnomAD rs749017586
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.72
- CADD 26.70
- PolyPhen-2 0.53
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available