M2T (p.Met2Thr) variant of ANK2 (Ankyrin-2)
M2T (p.Met2Thr) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- rs116338686
- gnomAD 4-113145933-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 16.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score 0.0557
- Literature evidence available