A22V (p.Ala22Val) variant of MAX (Protein max)
A22V (p.Ala22Val) in MAX (Protein max) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD rs1420088914
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.09
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available