D5E (p.Asp5Glu) variant of MAX (Protein max)
D5E (p.Asp5Glu) in MAX (Protein max) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- Ensembl rs2139977386
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.46
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available