S76L (p.Ser76Leu) variant of SIX1 (Homeobox protein SIX1)
S76L (p.Ser76Leu) 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 and structural context.
S76L (p.Ser76Leu) variant details
- p.Ser76Leu
- ExAC rs756912951
- TOPMed rs756912951
- gnomAD rs756912951
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 28.50
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available