A6P (p.Ala6Pro) variant of ANK2 (Ankyrin-2)
A6P (p.Ala6Pro) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- gnomAD 4-113117293-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 18.60
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.485
- Literature evidence available