R38P (p.Arg38Pro) variant of SDHD (O14521)
R38P (p.Arg38Pro) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- rs199901239
- ClinGen CA228551108
- ClinVar RCV002232273
- ClinVar RCV003159820
- Uncertain significance
- Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.48
- CADD 3.76
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Paragangliomas with sensorineural hearing loss; Pheochromocytoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)