R60C (p.Arg60Cys) variant of SIX1 (Homeobox protein SIX1)
R60C (p.Arg60Cys) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R60C (p.Arg60Cys) variant details
- p.Arg60Cys
- cosmic curated COSV55960
- TOPMed rs1895008880
- gnomAD rs1895008880
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- CADD 32.00
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available