A54A (p.Ala54Ala) variant of SIX1 (Homeobox protein SIX1)
A54A (p.Ala54Ala) in SIX1 (Homeobox protein SIX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- rs150550985
- gnomAD 14-60649028-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.182
- CADD 14.30
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available