S8R (p.Ser8Arg) variant of SDHD (O14521)
S8R (p.Ser8Arg) in SDHD (O14521) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- TOPMed rs11550094
- gnomAD rs11550094
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.56
- CADD 22.80
- PolyPhen-2 0.60
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carne)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available