A20G (p.Ala20Gly) variant of CPT2 (P23786)
A20G (p.Ala20Gly) in CPT2 (P23786) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- 1000Genomes rs533282672
- TOPMed rs533282672
- gnomAD rs533282672
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.13
- MetaLR 0.32
- MetaSVM -0.80
- CADD 5.58
- PolyPhen-2 0.00
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available