P16Q (p.Pro16Gln) variant of MAX (Protein max)
P16Q (p.Pro16Gln) in MAX (Protein max) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P16Q (p.Pro16Gln) variant details
- p.Pro16Gln
- Ensembl rs2063834899
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.46
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available