M2I (p.Met2Ile) variant of ANK2 (Ankyrin-2)
M2I (p.Met2Ile) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M2I (p.Met2Ile) variant details
- p.Met2Ile
- gnomAD 4-112904505-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 23.10
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score 0.0557
- Literature evidence available