P28S (p.Pro28Ser) variant of SDHD (O14521)
P28S (p.Pro28Ser) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs541477171
- ClinGen CA071562
- ClinVar RCV001876289
- ClinVar RCV002429890
- Uncertain significance
- Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.58
- AlphaMissense 0.10
- MetaLR 0.65
- MetaSVM 0.34
- CADD 25.10
- PolyPhen-2 0.78
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- 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)