S22T (p.Ser22Thr) variant of CPT2 (P23786)
S22T (p.Ser22Thr) in CPT2 (P23786) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S22T (p.Ser22Thr) variant details
- p.Ser22Thr
- TOPMed rs1057287341
- gnomAD rs1057287341
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.15
- MetaLR 0.37
- MetaSVM -0.81
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available