R10K (p.Arg10Lys) variant of ACADM (P11310)
R10K (p.Arg10Lys) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R10K (p.Arg10Lys) variant details
- p.Arg10Lys
- gnomAD 1-75724816-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.34
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.81
- Population evidence available
- Structural context available
- Literature evidence available