G2E (p.Gly2Glu) variant of MYLK (Q15746)
G2E (p.Gly2Glu) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- gnomAD rs1178879948
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.38
- CADD 24.20
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available