N104S (p.Asn104Ser) variant of SDHB (P21912)
N104S (p.Asn104Ser) in SDHB (P21912) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Inherited phaeochromocytoma and paraganglioma excluding NF1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
N104S (p.Asn104Ser) variant details
- p.Asn104Ser
- TOPMed rs1310341038
- gnomAD rs1310341038
- Pathogenic
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.83
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Inherited phaeochromocytoma and paraganglioma excluding NF1)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available