S22V (p.Ser22Val) variant of CPT2 (P23786)
S22V (p.Ser22Val) in CPT2 (P23786) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S22V (p.Ser22Val) variant details
- p.Ser22Val
- gnomAD 1-53197001-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 15.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available