A33T (p.Ala33Thr) variant of SDHD (O14521)
A33T (p.Ala33Thr) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Carney-Stratak. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- rs2135267174
- ClinGen CA382616985
- ClinVar RCV002030411
- Ensembl rs2135267174
- Uncertain significance
- Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Carney-Stratak
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.08
- MetaLR 0.67
- MetaSVM 0.31
- PolyPhen-2 0.36
- SIFT 0.19
- EVE 0.15
- ClinVar: Uncertain significance (Pheochromocytoma; Paragangliomas with sensorineural hearing loss)
- 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)