E40K (p.Glu40Lys) variant of ACADM (P11310)
E40K (p.Glu40Lys) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- gnomAD 1-75728488-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.50
- CADD 33.00
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available