H102N (p.His102Asn) variant of SDHD (O14521)
H102N (p.His102Asn) 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; Carney-Stratakis syndrome; Paragangliomas with sensorineural. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
H102N (p.His102Asn) variant details
- p.His102Asn
- rs786202403
- ClinGen CA016659
- ClinVar RCV000165195
- ClinVar RCV002228740
- Pathogenic/Likely pathogenic
- Cowden syndrome 3; Carney-Stratakis syndrome; Paragangliomas with sensorineural
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.90
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Cowden syndrome 3; Carney-Stratakis syndrome; Paragangliomas wit)
- 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)