D92G (p.Asp92Gly) variant of SDHD (O14521)
D92G (p.Asp92Gly) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mitochondrial complex 2 deficiency, nuclear type 3; Fatal infantile mitochondria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
D92G (p.Asp92Gly) variant details
- p.Asp92Gly
- rs786205436
- ClinGen CA016709
- ClinVar RCV000171136
- ClinVar RCV000186596
- Pathogenic
- Mitochondrial complex 2 deficiency, nuclear type 3; Fatal infantile mitochondria
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Mitochondrial complex 2 deficiency, nuclear type 3; Fatal infant)
- EBI: Pathogenic (in MC2DN3)
- UniProt: Pathogenic (in MC2DN3)
- Structural context available
- Cited in: A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II… (PMID 26008905)
- Cited in: Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. (PMID 24367056)