T77I (p.Thr77Ile) variant of ETFB (P38117)
T77I (p.Thr77Ile) 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.
T77I (p.Thr77Ile) variant details
- p.Thr77Ile
- TOPMed rs1299213601
- gnomAD rs1299213601
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.81
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available