H80Y (p.His80Tyr) variant of SIX1 (Homeobox protein SIX1)
H80Y (p.His80Tyr) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
H80Y (p.His80Tyr) variant details
- p.His80Tyr
- Ensembl rs1895007176
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 28.40
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available