G17A (p.Gly17Ala) variant of CPT2 (P23786)
G17A (p.Gly17Ala) 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, published literature, and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- gnomAD 1-53196993-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.24
- MetaLR 0.30
- MetaSVM -0.86
- CADD 9.41
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available