K39Q (p.Lys39Gln) variant of CA2 (Carbonic anhydrase 2)
K39Q (p.Lys39Gln) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
K39Q (p.Lys39Gln) variant details
- p.Lys39Gln
- rs2536478754
- ClinGen CA371424597
- ClinVar RCV002832860
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available