E14Q (p.Glu14Gln) variant of ANK2 (Ankyrin-2)
E14Q (p.Glu14Gln) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- gnomAD 4-113049768-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.20
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.31
- Literature evidence available