H44Q (p.His44Gln) variant of SIX1 (Homeobox protein SIX1)
H44Q (p.His44Gln) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H44Q (p.His44Gln) variant details
- p.His44Gln
- ESP rs149166341
- ExAC rs149166341
- TOPMed rs149166341
- gnomAD rs149166341
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.666