H78Q (p.His78Gln) variant of SIX1 (Homeobox protein SIX1)
H78Q (p.His78Gln) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H78Q (p.His78Gln) variant details
- p.His78Gln
- gnomAD 14-60648956-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available