N17K (p.Asn17Lys) variant of ANK2 (Ankyrin-2)
N17K (p.Asn17Lys) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- rs1242786445
- gnomAD 4-113117347-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.687
- CADD 18.10
- 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
- Literature evidence available