P14T (p.Pro14Thr) variant of CPT2 (P23786)
P14T (p.Pro14Thr) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- gnomAD 1-53196983-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.12
- MetaLR 0.31
- MetaSVM -0.83
- CADD 8.19
- PolyPhen-2 0.01
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available