S22Q (p.Ser22Gln) variant of CPT2 (P23786)
S22Q (p.Ser22Gln) in CPT2 (P23786) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S22Q (p.Ser22Gln) variant details
- p.Ser22Gln
- gnomAD 1-53197001-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 22.60
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available