V6E (p.Val6Glu) variant of SDHAF2 (Q9NX18)
V6E (p.Val6Glu) 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 0.23 / 1. The record also includes population frequency data and structural context.
V6E (p.Val6Glu) variant details
- p.Val6Glu
- Ensembl rs1565125251
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.21
- AlphaMissense 0.18
- MetaLR 0.36
- MetaSVM -0.76
- CADD 11.10
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available