E55E (p.Glu55Glu) variant of SLC25A14 (O95258)
E55E (p.Glu55Glu) in SLC25A14 (O95258) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E55E (p.Glu55Glu) variant details
- p.Glu55Glu
- rs1448054403
- gnomAD X-130345271-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 8.03
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Literature evidence available