R59K (p.Arg59Lys) variant of ATXN1 (Ataxin-1)
R59K (p.Arg59Lys) 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 0.30 / 1. The record also includes population frequency data and structural context.
R59K (p.Arg59Lys) variant details
- p.Arg59Lys
- rs1257578125
- NCI-TCGA Cosmic COSV5521
- cosmic curated COSV55217
- TOPMed rs1257578125
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.10
- AlphaMissense 0.13
- MetaLR 0.09
- MetaSVM -0.91
- CADD 20.40
- PolyPhen-2 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available