D38N (p.Asp38Asn) variant of SDHA (P31040)
D38N (p.Asp38Asn) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- rs1553997174
- ClinGen CA359008175
- cosmic curated COSV10459
- ClinVar RCV001929371
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.04
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Mitochondrial complex I)
- EBI: Variant of uncertain significance (in dbSNP:rs34635677)
- UniProt: Uncertain significance (in dbSNP:rs34635677)
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)