R40Q (p.Arg40Gln) variant of ANK2 (Ankyrin-2)
R40Q (p.Arg40Gln) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- rs2094919857
- gnomAD 4-113117408-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 18.90
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.0652
- Literature evidence available