L16V (p.Leu16Val) variant of SDHAF2 (Q9NX18)
L16V (p.Leu16Val) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- rs1312422519
- ClinGen CA380682770
- ClinVar RCV001228955
- gnomAD rs1312422519
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.09
- MetaLR 0.21
- MetaSVM -0.97
- CADD 4.54
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)