V46H (p.Val46His) variant of SDHD (O14521)
V46H (p.Val46His) in SDHD (O14521) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V46H (p.Val46His) variant details
- p.Val46His
- gnomAD 11-112087938-GAGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 29.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available