H119Q (p.His119Gln) variant of ATXN3 (Ataxin-3)
H119Q (p.His119Gln) in ATXN3 (Ataxin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
H119Q (p.His119Gln) variant details
- p.His119Gln
- rs754873504
- ClinGen CA206116
- cosmic curated COSV10818
- ClinVar RCV000192948
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available