G13A (p.Gly13Ala) variant of ANK2 (Ankyrin-2)
G13A (p.Gly13Ala) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- gnomAD 4-113145873-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 20.30
- Most common in the REMAINING population (allele frequency 2.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.228
- Literature evidence available