Q23R (p.Gln23Arg) variant of ACADM (P11310)
Q23R (p.Gln23Arg) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- gnomAD 1-75728438-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.51
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available