G28C (p.Gly28Cys) variant of CPT2 (P23786)
G28C (p.Gly28Cys) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G28C (p.Gly28Cys) variant details
- p.Gly28Cys
- gnomAD rs1235656058
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.25
- MetaLR 0.34
- MetaSVM -0.53
- CADD 22.50
- PolyPhen-2 0.43
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available