A20D (p.Ala20Asp) variant of CPT2 (P23786)
A20D (p.Ala20Asp) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD 1-53197002-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.78
- CADD 5.33
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available