Q53Q (p.Gln53Gln) variant of CA2 (Carbonic anhydrase 2)
Q53Q (p.Gln53Gln) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Q53Q (p.Gln53Gln) variant details
- p.Gln53Gln
- rs1811613100
- gnomAD 8-85465396-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0794
- CADD 1.07
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available