R56K (p.Arg56Lys) variant of ETFDH (Q16134)
R56K (p.Arg56Lys) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R56K (p.Arg56Lys) variant details
- p.Arg56Lys
- gnomAD 4-158680599-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.69
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available