R32K (p.Arg32Lys) variant of ETFDH (Q16134)
R32K (p.Arg32Lys) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R32K (p.Arg32Lys) variant details
- p.Arg32Lys
- gnomAD 4-158680527-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.37
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available