p.Pro40 Arg41insIleIleLysLys variant of ETFDH (Q16134)
p.Pro40 Arg41insIleIleLysLys in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro40 Arg41insIleIleLysLys variant details
- gnomAD 4-158680552-T-TAT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 17.40
- Population evidence available
- Structural context available
- Literature evidence available