E6K (p.Glu6Lys) variant of DYRK1A (Q13627)
E6K (p.Glu6Lys) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- ExAC rs757452222
- gnomAD rs757452222
- Missense
- Variant Prioritization Score for Impact Estimate 0.0619
- CADD 2.43
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available