S12I (p.Ser12Ile) variant of ANK2 (Ankyrin-2)
S12I (p.Ser12Ile) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- rs1428896596
- ClinGen CA357992711
- ClinVar RCV001768310
- TOPMed rs1428896596
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.15
- CADD 26.90
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.195