E67Q (p.Glu67Gln) variant of ANKRD1 (Q15327)
E67Q (p.Glu67Gln) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E67Q (p.Glu67Gln) variant details
- p.Glu67Gln
- TOPMed rs945448907
- gnomAD rs945448907
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.07
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available