P97H (p.Pro97His) variant of ATXN1 (Ataxin-1)
P97H (p.Pro97His) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P97H (p.Pro97His) variant details
- p.Pro97His
- gnomAD rs867470111
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.35
- AlphaMissense 0.18
- MetaLR 0.55
- MetaSVM 0.16
- CADD 25.90
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available