S12S (p.Ser12Ser) variant of ANK2 (Ankyrin-2)
S12S (p.Ser12Ser) in ANK2 (Ankyrin-2) is a synonymous 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.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs2066075615
- gnomAD 4-113049764-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 13.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.195
- Literature evidence available