K28E (p.Lys28Glu) variant of SLC25A14 (O95258)
K28E (p.Lys28Glu) in SLC25A14 (O95258) is a missense 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.
K28E (p.Lys28Glu) variant details
- p.Lys28Glu
- gnomAD X-130345188-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.23
- MetaSVM -0.78
- CADD 18.50
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available