K24N (p.Lys24Asn) variant of ANK2 (Ankyrin-2)
K24N (p.Lys24Asn) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K24N (p.Lys24Asn) variant details
- p.Lys24Asn
- gnomAD 4-113049800-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.06
- CADD 24.00
- PolyPhen-2 0.73
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score 0.053
- Literature evidence available