E27K (p.Glu27Lys) variant of ATXN1 (Ataxin-1)
E27K (p.Glu27Lys) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- cosmic curated COSV99784
- 1000Genomes rs551689167
- TOPMed rs551689167
- gnomAD rs551689167
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.12
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.98
- CADD 25.40
- PolyPhen-2 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available