P21L (p.Pro21Leu) variant of CPT2 (P23786)
P21L (p.Pro21Leu) 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 0.19 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- TOPMed rs1399429530
- gnomAD rs1399429530
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.10
- MetaLR 0.30
- MetaSVM -0.82
- CADD 8.93
- PolyPhen-2 0.00
- SIFT 0.72
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available