Y114C (p.Tyr114Cys) variant of SDHD (O14521)
Y114C (p.Tyr114Cys) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.72 / 1. The record also includes published literature and structural context.
Y114C (p.Tyr114Cys) variant details
- p.Tyr114Cys
- rs104894304
- ClinGen CA016797
- ClinVar RCV000007309
- ClinVar RCV000155750
- Pathogenic
- Cowden syndrome 3; Paragangliomas with sensorineural hearing loss; Pheochromocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.09
- MetaLR 0.99
- MetaSVM 1.00
- SIFT 0.01
- MutPred 0.57
- ClinVar: Pathogenic (Cowden syndrome 3; Paragangliomas with sensorineural hearing los)
- EBI: Pathogenic (in PPGL1)
- UniProt: Pathogenic (in PPGL1)
- Structural context available
- Cited in: Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. (PMID 11343322)
- Cited in: Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PMID 15328326)