E14G (p.Glu14Gly) variant of ANK2 (Ankyrin-2)
E14G (p.Glu14Gly) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- gnomAD 4-113049769-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.20
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.31
- Literature evidence available