R40I (p.Arg40Ile) variant of ANK2 (Ankyrin-2)
R40I (p.Arg40Ile) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40I (p.Arg40Ile) variant details
- p.Arg40Ile
- gnomAD 4-113117414-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 18.50
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.0652
- Literature evidence available