R29G (p.Arg29Gly) variant of SIX1 (Homeobox protein SIX1)
R29G (p.Arg29Gly) 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, experimental measurements, published literature, and structural context.
R29G (p.Arg29Gly) variant details
- p.Arg29Gly
- gnomAD 14-60649105-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 24.90
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.727
- Literature evidence available