V9L (p.Val9Leu) variant of MAX (Protein max)
V9L (p.Val9Leu) in MAX (Protein max) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs201743423
- ClinGen CA7233036
- cosmic curated COSV10608
- ClinVar RCV000351964
- Conflicting interpretations
- Pheochromocytoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.79
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma; Hereditary cancer-predisposing syndrome; not p)
- EBI: Pathogenic (in PCC)
- UniProt: Pathogenic (in PCC)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00038)
- Structural context available
- Cited in: MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. (PMID 22452945)
- Cited in: Functional and in silico assessment of MAX variants of unknown significance. (PMID 26070438)