Q45P (p.Gln45Pro) variant of ACADM (P11310)
Q45P (p.Gln45Pro) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Q45P (p.Gln45Pro) variant details
- p.Gln45Pro
- gnomAD 1-75732659-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.95
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available