T77T (p.Thr77Thr) variant of ETFB (P38117)
T77T (p.Thr77Thr) in ETFB (P38117) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T77T (p.Thr77Thr) variant details
- p.Thr77Thr
- rs147509776
- gnomAD 19-51353276-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0807
- CADD 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available