A57T (p.Ala57Thr) variant of SIX1 (Homeobox protein SIX1)
A57T (p.Ala57Thr) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- gnomAD rs1221612141
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 25.10
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available