P18T (p.Pro18Thr) variant of CPT2 (P23786)
P18T (p.Pro18Thr) 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.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- gnomAD 1-53196995-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.13
- MetaLR 0.31
- MetaSVM -0.81
- CADD 7.80
- PolyPhen-2 0.01
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available