N3T (p.Asn3Thr) variant of ANK2 (Ankyrin-2)
N3T (p.Asn3Thr) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N3T (p.Asn3Thr) variant details
- p.Asn3Thr
- rs1374538922
- gnomAD 4-113145876-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 21.10
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.155
- Literature evidence available