V98M (p.Val98Met) variant of ATXN1 (Ataxin-1)
V98M (p.Val98Met) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V98M (p.Val98Met) variant details
- p.Val98Met
- cosmic curated COSV10807
- ExAC rs765851071
- gnomAD rs765851071
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.05
- AlphaMissense 0.73
- MetaLR 0.07
- MetaSVM -1.05
- CADD 20.00
- PolyPhen-2 0.69
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available