P90S (p.Pro90Ser) variant of ATXN1 (Ataxin-1)
P90S (p.Pro90Ser) 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.
P90S (p.Pro90Ser) variant details
- p.Pro90Ser
- Ensembl rs2113414490
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.11
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.69
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available