S29F (p.Ser29Phe) variant of CPT2 (P23786)
S29F (p.Ser29Phe) 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 0.26 / 1. The record also includes population frequency data and structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- TOPMed rs1350053065
- gnomAD rs1350053065
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.15
- MetaLR 0.33
- MetaSVM -0.62
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available