A33E (p.Ala33Glu) variant of SDHD (O14521)
A33E (p.Ala33Glu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Paragangliomas with sensorineural hearing loss; Cowden syndrome 3; Pheochromocyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
A33E (p.Ala33Glu) variant details
- p.Ala33Glu
- rs1566692246
- ClinGen CA382616988
- ClinVar RCV002806858
- Uncertain significance
- Paragangliomas with sensorineural hearing loss; Cowden syndrome 3; Pheochromocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.11
- MetaLR 0.67
- MetaSVM 0.17
- PolyPhen-2 0.00
- SIFT 0.10
- EVE 0.18
- ClinVar: Uncertain significance (Paragangliomas with sensorineural hearing loss; Cowden syndrome)
- 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)