S8I (p.Ser8Ile) variant of SDHD (O14521)
S8I (p.Ser8Ile) in SDHD (O14521) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S8I (p.Ser8Ile) variant details
- p.Ser8Ile
- 1000Genomes rs558914063
- ExAC rs558914063
- gnomAD rs558914063
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.50
- CADD 23.10
- PolyPhen-2 0.52
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available