H55L (p.His55Leu) variant of ATXN1 (Ataxin-1)
H55L (p.His55Leu) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
H55L (p.His55Leu) variant details
- p.His55Leu
- ExAC rs756245803
- TOPMed rs756245803
- gnomAD rs756245803
- Missense
- Variant Prioritization Score for Impact Estimate 0.0815
- REVEL 0.03
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available