P21H (p.Pro21His) variant of CPT2 (P23786)
P21H (p.Pro21His) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carnitine palmitoyltransferase II deficiency; Carnitine palmitoyl transferase II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P21H (p.Pro21His) variant details
- p.Pro21His
- rs1399429530
- ClinGen CA340388662
- ClinVar RCV000671811
- ClinVar RCV001855568
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency; Carnitine palmitoyl transferase II
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.18
- MetaLR 0.29
- MetaSVM -0.72
- CADD 10.30
- PolyPhen-2 0.12
- SIFT 0.57
- ClinVar: Uncertain significance (Carnitine palmitoyltransferase II deficiency; Carnitine palmitoy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Carnitine Palmitoyltransferase II Deficiency. (PMID 20301431)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)