Q23E (p.Gln23Glu) variant of SIX1 (Homeobox protein SIX1)
Q23E (p.Gln23Glu) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q23E (p.Gln23Glu) variant details
- p.Gln23Glu
- gnomAD rs1895011772
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.957