F34C (p.Phe34Cys) variant of SDHD (O14521)
F34C (p.Phe34Cys) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
F34C (p.Phe34Cys) variant details
- p.Phe34Cys
- rs141802836
- ClinGen CA016754
- ClinVar RCV000122008
- ClinVar RCV000569765
- Conflicting interpretations
- Paragangliomas with sensorineural hearing loss; Cowden syndrome 3; Pheochromocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.69
- CADD 24.50
- PolyPhen-2 0.43
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Paragangliomas with sensorineural hearing loss; Cowden syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- 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)