K27R (p.Lys27Arg) variant of ANK2 (Ankyrin-2)
K27R (p.Lys27Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- gnomAD 4-113049808-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.06
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.236
- Literature evidence available