H78L (p.His78Leu) variant of SIX1 (Homeobox protein SIX1)
H78L (p.His78Leu) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
H78L (p.His78Leu) variant details
- p.His78Leu
- gnomAD 14-60648957-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available