C71G (p.Cys71Gly) variant of ETFB (P38117)
C71G (p.Cys71Gly) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
C71G (p.Cys71Gly) variant details
- p.Cys71Gly
- TOPMed rs1986010377
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.60
- CADD 29.10
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available