P50H (p.Pro50His) variant of CPT2 (P23786)
P50H (p.Pro50His) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Encephalopathy, acute, infection-induced, susceptibility to, 4; Carnitine palmit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P50H (p.Pro50His) variant details
- p.Pro50His
- rs28936375
- ClinGen CA254606
- cosmic curated COSV10468
- ClinVar RCV000009511
- Pathogenic/Likely pathogenic
- Encephalopathy, acute, infection-induced, susceptibility to, 4; Carnitine palmit
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Encephalopathy, acute, infection-induced, susceptibility to, 4;)
- EBI: Pathogenic (in CPT2D)
- UniProt: Pathogenic (in CPT2D)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0014)
- Structural context available
- Cited in: Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with… (PMID 12410208)
- Cited in: Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. (PMID 15622536)