R60H (p.Arg60His) variant of SIX1 (Homeobox protein SIX1)
R60H (p.Arg60His) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R60H (p.Arg60His) variant details
- p.Arg60His
- TOPMed rs893019043
- gnomAD rs893019043
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 23.40
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available