I40M (p.Ile40Met) variant of SDHD (O14521)
I40M (p.Ile40Met) 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 0.43 / 1. The record also includes published literature and structural context.
I40M (p.Ile40Met) variant details
- p.Ile40Met
- rs2135267285
- ClinGen CA382617027
- ClinVar RCV001886205
- Ensembl rs2135267285
- Uncertain significance
- Paragangliomas with sensorineural hearing loss; Cowden syndrome 3; Pheochromocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.07
- MetaLR 0.60
- MetaSVM -0.30
- PolyPhen-2 0.00
- SIFT 0.27
- EVE 0.14
- 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)