A2E (p.Ala2Glu) variant of ETFB (P38117)
A2E (p.Ala2Glu) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- TOPMed rs1247804968
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.52
- CADD 25.50
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available