R8A (p.Arg8Ala) variant of CPT2 (P23786)
R8A (p.Arg8Ala) in CPT2 (P23786) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R8A (p.Arg8Ala) variant details
- p.Arg8Ala
- rs1645324873
- gnomAD 1-53196962-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available