P47S (p.Pro47Ser) variant of ATXN1 (Ataxin-1)
P47S (p.Pro47Ser) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- cosmic curated COSV55208
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.14
- AlphaMissense 0.45
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available