V16A (p.Val16Ala) variant of CPT2 (P23786)
V16A (p.Val16Ala) in CPT2 (P23786) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V16A (p.Val16Ala) variant details
- p.Val16Ala
- rs2100254713
- gnomAD 1-53196979-G-GGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 15.80
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available