S20A (p.Ser20Ala) variant of MAX (Protein max)
S20A (p.Ser20Ala) in MAX (Protein max) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S20A (p.Ser20Ala) variant details
- p.Ser20Ala
- rs1328075485
- gnomAD 14-65077374-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 18.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available