P31S (p.Pro31Ser) variant of CPT2 (P23786)
P31S (p.Pro31Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs1216427183
- ClinGen CA340388721
- ClinVar RCV001096721
- TOPMed rs1216427183
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.14
- MetaLR 0.32
- MetaSVM -0.80
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.95
- ClinVar: Uncertain significance (Carnitine palmitoyltransferase II deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)