R37S (p.Arg37Ser) variant of ANK2 (Ankyrin-2)
R37S (p.Arg37Ser) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R37S (p.Arg37Ser) variant details
- p.Arg37Ser
- rs1017475184
- gnomAD 4-113117394-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 15.90
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.171
- Literature evidence available