H78Y (p.His78Tyr) variant of SIX1 (Homeobox protein SIX1)
H78Y (p.His78Tyr) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
H78Y (p.His78Tyr) variant details
- p.His78Tyr
- gnomAD 14-60648958-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 24.30
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available