S26A (p.Ser26Ala) variant of CPT2 (P23786)
S26A (p.Ser26Ala) 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.
S26A (p.Ser26Ala) variant details
- p.Ser26Ala
- rs1057517493
- gnomAD 1-53197017-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 3.48
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available