A78D (p.Ala78Asp) variant of ETFB (P38117)
A78D (p.Ala78Asp) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A78D (p.Ala78Asp) variant details
- p.Ala78Asp
- gnomAD 19-51353274-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.92
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available