G33V (p.Gly33Val) variant of ETFB (P38117)
G33V (p.Gly33Val) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G33V (p.Gly33Val) variant details
- p.Gly33Val
- ESP rs368139326
- ExAC rs368139326
- TOPMed rs368139326
- gnomAD rs368139326
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.87
- AlphaMissense 0.74
- MetaLR 0.83
- MetaSVM 0.90
- CADD 25.20
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available