G25E (p.Gly25Glu) variant of SIX1 (Homeobox protein SIX1)
G25E (p.Gly25Glu) 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.
G25E (p.Gly25Glu) variant details
- p.Gly25Glu
- gnomAD rs867031506
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 27.10
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.0916