K24R (p.Lys24Arg) variant of ANK2 (Ankyrin-2)
K24R (p.Lys24Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- TOPMed rs2066097153
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.04
- CADD 22.80
- PolyPhen-2 0.03
- 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