G56W (p.Gly56Trp) variant of ATXN1 (Ataxin-1)
G56W (p.Gly56Trp) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G56W (p.Gly56Trp) variant details
- p.Gly56Trp
- cosmic curated COSV99784
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.10
- CADD 22.10
- PolyPhen-2 0.57
- SIFT 0.19
- Population evidence available
- Structural context available