Q33L (p.Gln33Leu) variant of CPT2 (P23786)
Q33L (p.Gln33Leu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q33L (p.Gln33Leu) variant details
- p.Gln33Leu
- gnomAD 1-53197041-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.18
- MetaLR 0.33
- MetaSVM -0.79
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available