P33T (p.Pro33Thr) variant of ACADM (P11310)
P33T (p.Pro33Thr) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P33T (p.Pro33Thr) variant details
- p.Pro33Thr
- gnomAD 1-75728467-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.42
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available