H44R (p.His44Arg) variant of SIX1 (Homeobox protein SIX1)
H44R (p.His44Arg) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H44R (p.His44Arg) variant details
- p.His44Arg
- gnomAD rs1480268855
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.666