L47L (p.Leu47Leu) variant of CA2 (Carbonic anhydrase 2)
L47L (p.Leu47Leu) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- rs145096347
- gnomAD 8-85465376-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 9.19
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available