P24T (p.Pro24Thr) variant of CPT2 (P23786)
P24T (p.Pro24Thr) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- gnomAD 1-53197013-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.77
- CADD 5.79
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available