L19S (p.Leu19Ser) variant of SDHD (O14521)
L19S (p.Leu19Ser) in SDHD (O14521) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L19S (p.Leu19Ser) variant details
- p.Leu19Ser
- rs886041237
- gnomAD 11-112087856-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 35.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available