A83E (p.Ala83Glu) variant of ETFB (P38117)
A83E (p.Ala83Glu) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A83E (p.Ala83Glu) variant details
- p.Ala83Glu
- Ensembl rs923365001
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.95
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available