L139R (p.Leu139Arg) variant of SDHD (O14521)
L139R (p.Leu139Arg) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Paragangliomas with sensorineural hearing loss; Carney-Stratakis syndrome; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L139R (p.Leu139Arg) variant details
- p.Leu139Arg
- rs80338847
- ClinGen CA382619304
- ClinVar RCV002532294
- Ensembl rs80338847
- Likely pathogenic
- Paragangliomas with sensorineural hearing loss; Carney-Stratakis syndrome; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Paragangliomas with sensorineural hearing loss; Carney-Stratakis)
- EBI: Pathogenic (in PPGL1)
- UniProt: Pathogenic (in PPGL1)
- 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)