P23L (p.Pro23Leu) variant of SDHA (P31040)
P23L (p.Pro23Leu) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs376207983
- ClinGen CA3172713
- ClinVar RCV001025780
- ClinVar RCV006556948
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.18
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)