Q21L (p.Gln21Leu) variant of ANK2 (Ankyrin-2)
Q21L (p.Gln21Leu) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q21L (p.Gln21Leu) variant details
- p.Gln21Leu
- rs2097060413
- gnomAD 4-113151093-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 10.20
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.826
- Literature evidence available