A2T (p.Ala2Thr) variant of ACADM (P11310)
A2T (p.Ala2Thr) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 1-75724791-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.28
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available