L107R (p.Leu107Arg) variant of SDHD (O14521)
L107R (p.Leu107Arg) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mitochondrial complex 2 deficiency, nuclear type 3; Paragangliomas with sensorin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L107R (p.Leu107Arg) variant details
- p.Leu107Arg
- rs876658477
- ClinGen CA10579346
- ClinVar RCV000219575
- ClinVar RCV000986022
- Pathogenic/Likely pathogenic
- Mitochondrial complex 2 deficiency, nuclear type 3; Paragangliomas with sensorin
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.92
- CADD 29.10
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial complex 2 deficiency, nuclear type 3; Paragangliom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)