A54T (p.Ala54Thr) variant of SIX1 (Homeobox protein SIX1)
A54T (p.Ala54Thr) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- gnomAD rs1261097341
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- CADD 29.30
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available