Q21K (p.Gln21Lys) variant of ANK2 (Ankyrin-2)
Q21K (p.Gln21Lys) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q21K (p.Gln21Lys) variant details
- p.Gln21Lys
- rs2094913522
- gnomAD 4-113117377-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 18.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.826
- Literature evidence available