R23Q (p.Arg23Gln) variant of CPT2 (P23786)
R23Q (p.Arg23Gln) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- gnomAD 1-53197011-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.28
- MetaLR 0.34
- MetaSVM -0.52
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available