P39T (p.Pro39Thr) variant of SDHD (O14521)
P39T (p.Pro39Thr) 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; Pheochromocytoma; Cowden syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- rs1043566340
- ClinGen CA228551109
- ClinVar RCV002240510
- ClinVar RCV002374967
- Uncertain significance
- Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.07
- MetaLR 0.63
- MetaSVM -0.33
- PolyPhen-2 0.10
- SIFT 0.32
- EVE 0.22
- ClinVar: Uncertain significance (Paragangliomas with sensorineural hearing loss; Pheochromocytoma)
- 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)