T77S (p.Thr77Ser) variant of ETFB (P38117)
T77S (p.Thr77Ser) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
T77S (p.Thr77Ser) variant details
- p.Thr77Ser
- gnomAD 19-51353278-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.69
- CADD 23.90
- PolyPhen-2 0.70
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available