W5R (p.Trp5Arg) variant of SDHD (O14521)
W5R (p.Trp5Arg) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
W5R (p.Trp5Arg) variant details
- p.Trp5Arg
- rs778202647
- ClinGen CA382616643
- ClinVar RCV002389250
- ClinVar RCV002509839
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.55
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)