S48F (p.Ser48Phe) variant of CA2 (Carbonic anhydrase 2)
S48F (p.Ser48Phe) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- rs1564077060
- gnomAD 8-85465375-CCTGT-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 28.10
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available