H12H (p.His12His) variant of SDHC (Q99643)
H12H (p.His12His) in SDHC (Q99643) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H12H (p.His12His) variant details
- p.His12His
- gnomAD 1-161323629-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0849
- CADD 0.60
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available