D20E (p.Asp20Glu) variant of MYLK (Q15746)
D20E (p.Asp20Glu) in MYLK (Q15746) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D20E (p.Asp20Glu) variant details
- p.Asp20Glu
- ExAC rs780654221
- TOPMed rs780654221
- gnomAD rs780654221
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.07
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available