A52A (p.Ala52Ala) variant of SIX1 (Homeobox protein SIX1)
A52A (p.Ala52Ala) in SIX1 (Homeobox protein SIX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A52A (p.Ala52Ala) variant details
- p.Ala52Ala
- rs1020503352
- gnomAD 14-60649034-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 15.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available