A94E (p.Ala94Glu) variant of ETFB (P38117)
A94E (p.Ala94Glu) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A94E (p.Ala94Glu) variant details
- p.Ala94Glu
- gnomAD 19-51353226-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.23
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available