E18G (p.Glu18Gly) variant of ATXN1 (Ataxin-1)
E18G (p.Glu18Gly) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- cosmic curated COSV10504
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.29
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available