L19L (p.Leu19Leu) variant of SDHD (O14521)
L19L (p.Leu19Leu) in SDHD (O14521) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- gnomAD 11-112087859-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 14.70
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available