Q8H (p.Gln8His) variant of ANK2 (Ankyrin-2)
Q8H (p.Gln8His) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q8H (p.Gln8His) variant details
- p.Gln8His
- gnomAD 4-113049752-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.12
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.407
- Literature evidence available