Q8P (p.Gln8Pro) variant of ANK2 (Ankyrin-2)
Q8P (p.Gln8Pro) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q8P (p.Gln8Pro) variant details
- p.Gln8Pro
- gnomAD 4-113049751-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.19
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.15
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.407
- Literature evidence available