G19D (p.Gly19Asp) variant of SDHB (P21912)
G19D (p.Gly19Asp) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- gnomAD rs1207765873
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.51
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available