A33T (p.Ala33Thr) variant of ANK2 (Ankyrin-2)
A33T (p.Ala33Thr) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- gnomAD rs1193481066
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.14
- CADD 23.70
- PolyPhen-2 0.48
- SIFT 0.44
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.0274