D15A (p.Asp15Ala) variant of ETFB (P38117)
D15A (p.Asp15Ala) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
D15A (p.Asp15Ala) variant details
- p.Asp15Ala
- TOPMed rs981006954
- gnomAD rs981006954
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available