G61R (p.Gly61Arg) variant of SIX1 (Homeobox protein SIX1)
G61R (p.Gly61Arg) 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, published literature, and structural context.
G61R (p.Gly61Arg) variant details
- p.Gly61Arg
- gnomAD 14-60649009-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 25.00
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available