G19A (p.Gly19Ala) variant of CPT2 (P23786)
G19A (p.Gly19Ala) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- gnomAD rs938409577
- Uncertain significance
- Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.12
- MetaLR 0.32
- MetaSVM -0.86
- CADD 9.33
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Carnitine palmitoyl transferase II deficiency, severe infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7.6e-05)
- Structural context available