K68R (p.Lys68Arg) variant of SIX1 (Homeobox protein SIX1)
K68R (p.Lys68Arg) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K68R (p.Lys68Arg) variant details
- p.Lys68Arg
- TOPMed rs1293880867
- gnomAD rs1293880867
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available