R56G (p.Arg56Gly) variant of ETFDH (Q16134)
R56G (p.Arg56Gly) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- gnomAD 4-158680598-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.73
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available