L5Q (p.Leu5Gln) variant of CPT2 (P23786)
L5Q (p.Leu5Gln) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L5Q (p.Leu5Gln) variant details
- p.Leu5Gln
- gnomAD 1-53196957-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.41
- MetaLR 0.51
- MetaSVM 0.02
- CADD 25.90
- PolyPhen-2 0.80
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available