P3L (p.Pro3Leu) variant of CPT2 (P23786)
P3L (p.Pro3Leu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- ExAC rs749532648
- TOPMed rs749532648
- gnomAD rs749532648
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.30
- MetaLR 0.41
- MetaSVM -0.59
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available