G18A (p.Gly18Ala) variant of ANK2 (Ankyrin-2)
G18A (p.Gly18Ala) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- gnomAD 4-113145927-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 18.00
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.828
- Literature evidence available