A78A (p.Ala78Ala) variant of ETFB (P38117)
A78A (p.Ala78Ala) in ETFB (P38117) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A78A (p.Ala78Ala) variant details
- p.Ala78Ala
- gnomAD 19-51353273-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 4.63
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available