K27N (p.Lys27Asn) variant of ANK2 (Ankyrin-2)
K27N (p.Lys27Asn) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K27N (p.Lys27Asn) variant details
- p.Lys27Asn
- gnomAD 4-113145949-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 14.40
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.236
- Literature evidence available