P93S (p.Pro93Ser) variant of ATXN1 (Ataxin-1)
P93S (p.Pro93Ser) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P93S (p.Pro93Ser) variant details
- p.Pro93Ser
- cosmic curated COSV55228
- gnomAD rs1301020086
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.09
- AlphaMissense 0.47
- CADD 21.60
- PolyPhen-2 0.08
- SIFT 0.18
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available