K54T (p.Lys54Thr) variant of ACADM (P11310)
K54T (p.Lys54Thr) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K54T (p.Lys54Thr) variant details
- p.Lys54Thr
- gnomAD 1-75732686-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.76
- CADD 25.20
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available