Q44P (p.Gln44Pro) variant of SDHAF2 (Q9NX18)
Q44P (p.Gln44Pro) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q44P (p.Gln44Pro) variant details
- p.Gln44Pro
- rs2540124170
- ClinGen CA380683228
- ClinVar RCV003634544
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.32
- MetaLR 0.37
- MetaSVM -0.16
- CADD 23.80
- PolyPhen-2 0.37
- SIFT 0.36
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)