P18Q (p.Pro18Gln) variant of CPT2 (P23786)
P18Q (p.Pro18Gln) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P18Q (p.Pro18Gln) variant details
- p.Pro18Gln
- gnomAD 1-53196996-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.18
- MetaLR 0.29
- MetaSVM -0.78
- CADD 6.24
- PolyPhen-2 0.13
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available