E31E (p.Glu31Glu) variant of MYLK (Q15746)
E31E (p.Glu31Glu) in MYLK (Q15746) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E31E (p.Glu31Glu) variant details
- p.Glu31Glu
- gnomAD 3-123614111-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.65
- Population evidence available
- Structural context available
- Literature evidence available