E109K (p.Glu109Lys) variant of ATXN3 (Ataxin-3)
E109K (p.Glu109Lys) in ATXN3 (Ataxin-3) 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 0.78 / 1. The record also includes population frequency data.
E109K (p.Glu109Lys) variant details
- p.Glu109Lys
- rs772732276
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- ExAC rs772732276
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 25.80
- PolyPhen-2 0.92
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)