E47G (p.Glu47Gly) variant of SIX1 (Homeobox protein SIX1)
E47G (p.Glu47Gly) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E47G (p.Glu47Gly) variant details
- p.Glu47Gly
- cosmic curated COSV10955
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.458