G13D (p.Gly13Asp) variant of CPT2 (P23786)
G13D (p.Gly13Asp) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- TOPMed rs1211611094
- gnomAD rs1211611094
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.29
- MetaLR 0.38
- MetaSVM -0.84
- CADD 9.63
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available