K28N (p.Lys28Asn) variant of ANK2 (Ankyrin-2)
K28N (p.Lys28Asn) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K28N (p.Lys28Asn) variant details
- p.Lys28Asn
- gnomAD 4-113049812-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.17
- CADD 35.00
- PolyPhen-2 0.22
- SIFT 0.03
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.225
- Literature evidence available