D37N (p.Asp37Asn) variant of SDHD (O14521)
D37N (p.Asp37Asn) 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; Paragangliomas with sensorineural hearing loss; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- rs1865654125
- ClinGen CA382617008
- ClinVar RCV002241941
- ClinVar RCV002447331
- Uncertain significance
- Carney-Stratakis syndrome; Paragangliomas with sensorineural hearing loss; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.09
- MetaLR 0.66
- MetaSVM 0.04
- PolyPhen-2 0.00
- SIFT 0.10
- EVE 0.23
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Paragangliomas with sensorineural hea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)