G61D (p.Gly61Asp) variant of SIX1 (Homeobox protein SIX1)
G61D (p.Gly61Asp) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G61D (p.Gly61Asp) variant details
- p.Gly61Asp
- gnomAD 14-60649008-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.80
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available