A2V (p.Ala2Val) variant of SDHAF2 (Q9NX18)
A2V (p.Ala2Val) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyto. 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs867394650
- ClinGen CA222873795
- ClinVar RCV002943115
- ClinVar RCV003382973
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.39
- MetaLR 0.35
- MetaSVM -0.51
- CADD 23.50
- PolyPhen-2 0.18
- SIFT 0.21
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)