F39S (p.Phe39Ser) variant of ACADM (P11310)
F39S (p.Phe39Ser) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
F39S (p.Phe39Ser) variant details
- p.Phe39Ser
- gnomAD 1-75728486-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available