D92V (p.Asp92Val) variant of SDHD (O14521)
D92V (p.Asp92Val) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
D92V (p.Asp92Val) variant details
- p.Asp92Val
- rs786205436
- ClinGen CA16619272
- ClinVar RCV000479419
- ClinVar RCV000569878
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma
- 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: Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Pheochrom)
- EBI: Pathogenic (in PPGL1)
- UniProt: Pathogenic (in PPGL1)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)