D213G (p.Asp213Gly) variant of CPT2 (P23786)
D213G (p.Asp213Gly) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine palmitoyltransferase II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
D213G (p.Asp213Gly) variant details
- p.Asp213Gly
- rs74315300
- ClinGen CA254615
- ClinVar RCV000009529
- ClinVar RCV003581557
- Pathogenic/Likely pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 0.97
- MetaLR 0.88
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Structural context available
- Cited in: Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. (PMID 15622536)
- Cited in: Carnitine Palmitoyltransferase II Deficiency. (PMID 20301431)