R76C (p.Arg76Cys) variant of ETFB (P38117)
R76C (p.Arg76Cys) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R76C (p.Arg76Cys) variant details
- p.Arg76Cys
- cosmic curated COSV58535
- ExAC rs777287614
- TOPMed rs777287614
- gnomAD rs777287614
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.92
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available