V11F (p.Val11Phe) variant of ACADM (P11310)
V11F (p.Val11Phe) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V11F (p.Val11Phe) variant details
- p.Val11Phe
- gnomAD 1-75728401-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.53
- CADD 24.50
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available