R25S (p.Arg25Ser) variant of ANK2 (Ankyrin-2)
R25S (p.Arg25Ser) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- gnomAD 4-113117370-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 14.70
- Most common in the REMAINING population (allele frequency 7e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.122
- Literature evidence available