A2G (p.Ala2Gly) variant of ACADM (P11310)
A2G (p.Ala2Gly) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 1-75724792-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.34
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available