G17S (p.Gly17Ser) variant of CPT2 (P23786)
G17S (p.Gly17Ser) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- gnomAD 1-53196992-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.26
- MetaLR 0.33
- MetaSVM -0.82
- CADD 13.40
- PolyPhen-2 0.04
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available