R29L (p.Arg29Leu) variant of SIX1 (Homeobox protein SIX1)
R29L (p.Arg29Leu) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- gnomAD 14-60649104-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.727
- Literature evidence available