R8G (p.Arg8Gly) variant of CPT2 (P23786)
R8G (p.Arg8Gly) 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.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- gnomAD 1-53196965-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.36
- MetaLR 0.38
- MetaSVM -0.28
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available