S19G (p.Ser19Gly) variant of ANK2 (Ankyrin-2)
S19G (p.Ser19Gly) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S19G (p.Ser19Gly) variant details
- p.Ser19Gly
- ExAC rs768352926
- TOPMed rs768352926
- gnomAD rs768352926
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0977
- REVEL 0.05
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.396