Q33R (p.Gln33Arg) variant of CPT2 (P23786)
Q33R (p.Gln33Arg) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- TOPMed rs1645327584
- gnomAD rs1645327584
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.19
- MetaLR 0.33
- MetaSVM -0.83
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available