G32D (p.Gly32Asp) variant of CPT2 (P23786)
G32D (p.Gly32Asp) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G32D (p.Gly32Asp) variant details
- p.Gly32Asp
- gnomAD rs1273931137
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.81
- CADD 8.90
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available