Q21Q (p.Gln21Gln) variant of ANK2 (Ankyrin-2)
Q21Q (p.Gln21Gln) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q21Q (p.Gln21Gln) variant details
- p.Gln21Gln
- rs1060504155
- gnomAD 4-113049791-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 11.50
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.826
- Literature evidence available