G102E (p.Gly102Glu) variant of MYLK (Q15746)
G102E (p.Gly102Glu) in MYLK (Q15746) 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.
G102E (p.Gly102Glu) variant details
- p.Gly102Glu
- ExAC rs758300915
- TOPMed rs758300915
- gnomAD rs758300915
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.60
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available