H34M (p.His34Met) variant of SLC25A14 (O95258)
H34M (p.His34Met) in SLC25A14 (O95258) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H34M (p.His34Met) variant details
- p.His34Met
- rs1457818921
- gnomAD X-130345205-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 26.30
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available