H26H (p.His26His) variant of SLC25A14 (O95258)
H26H (p.His26His) in SLC25A14 (O95258) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H26H (p.His26His) variant details
- p.His26His
- gnomAD X-130345184-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 14.30
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Literature evidence available