D92N (p.Asp92Asn) variant of SDHD (O14521)
D92N (p.Asp92Asn) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
D92N (p.Asp92Asn) variant details
- p.Asp92Asn
- rs80338845
- ClinGen CA382617360
- ClinVar RCV003809571
- Uncertain significance
- Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma)
- EBI: Variant of uncertain significance (in PPGL1)
- UniProt: Uncertain significance (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)