P68S (p.Pro68Ser) variant of ETFB (P38117)
P68S (p.Pro68Ser) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P68S (p.Pro68Ser) variant details
- p.Pro68Ser
- ExAC rs770467292
- TOPMed rs770467292
- gnomAD rs770467292
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.71
- CADD 26.00
- PolyPhen-2 0.84
- SIFT 0.11
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available