Q33E (p.Gln33Glu) variant of CPT2 (P23786)
Q33E (p.Gln33Glu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q33E (p.Gln33Glu) variant details
- p.Gln33Glu
- gnomAD 1-53197040-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.13
- MetaLR 0.33
- MetaSVM -0.88
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available