R40R (p.Arg40Arg) variant of ANK2 (Ankyrin-2)
R40R (p.Arg40Arg) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40R (p.Arg40Arg) variant details
- p.Arg40Arg
- rs1021398367
- gnomAD 4-113117407-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 16.70
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.0652
- Literature evidence available