E14E (p.Glu14Glu) variant of CA2 (Carbonic anhydrase 2)
E14E (p.Glu14Glu) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- gnomAD 8-85465279-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 5.75
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available