S30P (p.Ser30Pro) variant of SDHAF2 (Q9NX18)
S30P (p.Ser30Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- rs1312756692
- ClinGen CA380682979
- ClinVar RCV003037700
- ClinVar RCV006449067
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 0.24
- EVE 0.14
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)