P97L (p.Pro97Leu) variant of ATXN1 (Ataxin-1)
P97L (p.Pro97Leu) in ATXN1 (Ataxin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
P97L (p.Pro97Leu) variant details
- p.Pro97Leu
- rs867470111
- NCI-TCGA Cosmic COSV5522
- cosmic curated COSV55222
- gnomAD rs867470111
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.18
- MetaLR 0.55
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available