N17T (p.Asn17Thr) variant of ANK2 (Ankyrin-2)
N17T (p.Asn17Thr) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N17T (p.Asn17Thr) variant details
- p.Asn17Thr
- rs769494048
- gnomAD 4-113145927-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 7.99
- Most common in the Ashkenazi Jewish population (allele frequency 6.3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.478
- Literature evidence available