K18K (p.Lys18Lys) variant of CA2 (Carbonic anhydrase 2)
K18K (p.Lys18Lys) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K18K (p.Lys18Lys) variant details
- p.Lys18Lys
- gnomAD 8-85465291-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 10.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available