E35K (p.Glu35Lys) variant of SLC25A14 (O95258)
E35K (p.Glu35Lys) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- gnomAD rs1341424045
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.21
- MetaSVM -0.85
- CADD 22.20
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available