T77A (p.Thr77Ala) variant of ETFB (P38117)
T77A (p.Thr77Ala) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T77A (p.Thr77Ala) variant details
- p.Thr77Ala
- gnomAD 19-51353278-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.71
- CADD 24.40
- 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