E42K (p.Glu42Lys) variant of SDHD (O14521)
E42K (p.Glu42Lys) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- rs756995021
- ClinGen CA070647
- ClinVar RCV001910917
- ClinVar RCV002397852
- Uncertain significance
- Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.57
- AlphaMissense 0.09
- MetaLR 0.55
- MetaSVM -0.41
- CADD 16.50
- PolyPhen-2 0.18
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)