V605L (p.Val605Leu) variant of CPT2 (P23786)
V605L (p.Val605Leu) 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; Encephalopathy, acute, infection-i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V605L (p.Val605Leu) variant details
- p.Val605Leu
- rs751557097
- ClinGen CA859286
- ClinVar RCV001054616
- ClinVar RCV003473653
- Pathogenic/Likely pathogenic
- Carnitine palmitoyltransferase II deficiency; Encephalopathy, acute, infection-i
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.77
- CADD 25.40
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine palmitoyltransferase II deficiency; Encephalopathy, ac)
- EBI: Pathogenic (in a patient with IIAE4)
- UniProt: Pathogenic (in a patient with IIAE4)
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Cited in: Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel… (PMID 18306170)
- Cited in: Carnitine Palmitoyltransferase II Deficiency. (PMID 20301431)