H30P (p.His30Pro) variant of SDHD (O14521)
H30P (p.His30Pro) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H30P (p.His30Pro) variant details
- p.His30Pro
- rs1592778803
- ClinGen CA16616760
- ClinVar RCV002234954
- ClinVar RCV002291699
- Uncertain significance
- not provided; Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.58
- CADD 1.42
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided; Hereditary pheochromocytoma and paraganglioma; Her)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)