H38Q (p.His38Gln) variant of MAX (Protein max)
H38Q (p.His38Gln) in MAX (Protein max) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
H38Q (p.His38Gln) variant details
- p.His38Gln
- Ensembl rs2139884980
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.70
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available