S29A (p.Ser29Ala) variant of CPT2 (P23786)
S29A (p.Ser29Ala) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S29A (p.Ser29Ala) variant details
- p.Ser29Ala
- rs1342928062
- ClinGen CA340388708
- ClinVar RCV002018314
- ClinVar RCV005025654
- Uncertain significance
- Carnitine palmitoyltransferase II deficiency; Carnitine palmitoyl transferase II
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.21
- MetaLR 0.28
- MetaSVM -0.85
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (Carnitine palmitoyltransferase II deficiency; Carnitine palmitoy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)