R4A (p.Arg4Ala) variant of CPT2 (P23786)
R4A (p.Arg4Ala) 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.
R4A (p.Arg4Ala) variant details
- p.Arg4Ala
- gnomAD 1-53196949-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 19.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available