G84E (p.Gly84Glu) variant of MYLK (Q15746)
G84E (p.Gly84Glu) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G84E (p.Gly84Glu) variant details
- p.Gly84Glu
- gnomAD 3-123617772-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 8.67
- Population evidence available
- Structural context available
- Literature evidence available