K39S (p.Lys39Ser) variant of CA2 (Carbonic anhydrase 2)
K39S (p.Lys39Ser) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K39S (p.Lys39Ser) variant details
- p.Lys39Ser
- gnomAD 8-85465349-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 22.80
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available