N17D (p.Asn17Asp) variant of ANK2 (Ankyrin-2)
N17D (p.Asn17Asp) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N17D (p.Asn17Asp) variant details
- p.Asn17Asp
- rs1424055453
- ClinGen CA357992742
- ClinVar RCV003338989
- ClinVar RCV004572941
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.18
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.478