S12G (p.Ser12Gly) variant of ANK2 (Ankyrin-2)
S12G (p.Ser12Gly) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- ExAC rs778450160
- gnomAD rs778450160
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.195