R31G (p.Arg31Gly) variant of MYL3 (Myosin light chain 3)
R31G (p.Arg31Gly) 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 0.21 / 1. The record also includes population frequency data and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- ESP rs377026344
- ExAC rs377026344
- TOPMed rs377026344
- gnomAD rs377026344
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.11
- CADD 17.00
- PolyPhen-2 0.02
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available