E4K (p.Glu4Lys) variant of ANK2 (Ankyrin-2)
E4K (p.Glu4Lys) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar 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 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- 1000Genomes rs535919946
- ExAC rs535919946
- gnomAD rs535919946
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.28
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.0751