N17I (p.Asn17Ile) variant of ANK2 (Ankyrin-2)
N17I (p.Asn17Ile) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N17I (p.Asn17Ile) variant details
- p.Asn17Ile
- rs1242786445
- gnomAD 4-113117347-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 17.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.478
- Literature evidence available