K22R (p.Lys22Arg) variant of ETFDH (Q16134)
K22R (p.Lys22Arg) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K22R (p.Lys22Arg) variant details
- p.Lys22Arg
- TOPMed rs1580394733
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.32
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available