A3T (p.Ala3Thr) variant of ACADM (P11310)
A3T (p.Ala3Thr) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 1-75724794-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available