D92Y (p.Asp92Tyr) variant of SDHD (O14521)
D92Y (p.Asp92Tyr) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cowden syndrome 3; Paragangliomas with sensorineural hearing loss; Pheochromocyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
D92Y (p.Asp92Tyr) variant details
- p.Asp92Tyr
- rs80338845
- ClinGen CA016702
- ClinVar RCV000007305
- ClinVar RCV000020520
- Pathogenic/Likely pathogenic
- Cowden syndrome 3; Paragangliomas with sensorineural hearing loss; Pheochromocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- REVEL 0.99
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.99
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cowden syndrome 3; Paragangliomas with sensorineural hearing los)
- EBI: Pathogenic (in PPGL1)
- UniProt: Pathogenic (in PPGL1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PMID 10657297)
- Cited in: Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. (PMID 11391798)