L4S (p.Leu4Ser) variant of SDHD (O14521)
L4S (p.Leu4Ser) in SDHD (O14521) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L4S (p.Leu4Ser) variant details
- p.Leu4Ser
- gnomAD 11-112086916-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available