S8N (p.Ser8Asn) variant of SDHD (O14521)
S8N (p.Ser8Asn) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensorineural hearing l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- rs558914063
- ClinGen CA382616675
- ClinVar RCV002242662
- ClinVar RCV002432047
- Uncertain significance
- Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensorineural hearing l
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.41
- CADD 18.80
- PolyPhen-2 0.24
- SIFT 0.09
- ClinVar: Uncertain significance (Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensori)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)