H55P (p.His55Pro) variant of ATXN1 (Ataxin-1)
H55P (p.His55Pro) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
H55P (p.His55Pro) variant details
- p.His55Pro
- ExAC rs756245803
- TOPMed rs756245803
- gnomAD rs756245803
- Missense
- Variant Prioritization Score for Impact Estimate 0.0885
- REVEL 0.04
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available