A27T (p.Ala27Thr) variant of CPT2 (P23786)
A27T (p.Ala27Thr) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- gnomAD 1-53197022-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.17
- MetaLR 0.30
- MetaSVM -0.83
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available