V16G (p.Val16Gly) variant of CPT2 (P23786)
V16G (p.Val16Gly) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V16G (p.Val16Gly) variant details
- p.Val16Gly
- gnomAD 1-53196990-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.15
- MetaLR 0.34
- MetaSVM -0.71
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available