E19K (p.Glu19Lys) variant of SIX1 (Homeobox protein SIX1)
E19K (p.Glu19Lys) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- gnomAD rs1490210309
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 25.70
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -1.02