E95D (p.Glu95Asp) variant of ETFB (P38117)
E95D (p.Glu95Asp) in ETFB (P38117) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E95D (p.Glu95Asp) variant details
- p.Glu95Asp
- ExAC rs777130490
- TOPMed rs777130490
- gnomAD rs777130490
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.25
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.66
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available