K40E (p.Lys40Glu) variant of SDHB (P21912)
K40E (p.Lys40Glu) in SDHB (P21912) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Inherited phaeochromocytoma and paraganglioma excluding NF1; Pheochromocytoma/pa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
K40E (p.Lys40Glu) variant details
- p.Lys40Glu
- UniProt VAR 054375
- Pathogenic/Likely pathogenic
- Inherited phaeochromocytoma and paraganglioma excluding NF1; Pheochromocytoma/pa
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.95
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inherited phaeochromocytoma and paraganglioma excluding NF1; Phe)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma. (PMID 15473885)