D23E (p.Asp23Glu) variant of MAX (Protein max)
D23E (p.Asp23Glu) in MAX (Protein max) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PCC. 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.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- Ensembl rs2139887233
- Uncertain significance
- in PCC
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.43
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.65
- EBI: uncertain significance (in PCC)
- UniProt: Uncertain significance (in PCC)
- Population evidence available
- Structural context available