P68A (p.Pro68Ala) variant of ETFB (P38117)
P68A (p.Pro68Ala) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P68A (p.Pro68Ala) variant details
- p.Pro68Ala
- ExAC rs770467292
- TOPMed rs770467292
- gnomAD rs770467292
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 16.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available