R64W (p.Arg64Trp) variant of ETFDH (Q16134)
R64W (p.Arg64Trp) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- gnomAD 4-158682209-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.90
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available