P95R (p.Pro95Arg) variant of SDHA (P31040)
P95R (p.Pro95Arg) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
P95R (p.Pro95Arg) variant details
- p.Pro95Arg
- rs1553997377
- ClinGen CA359008642
- ClinVar RCV000558917
- ClinVar RCV000570222
- Likely pathogenic
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- AlphaMissense 0.95
- MetaLR 0.50
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)