A109V (p.Ala109Val) variant of ATP1A3 (P13637)
A109V (p.Ala109Val) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A109V (p.Ala109Val) variant details
- p.Ala109Val
- rs1568866568
- ClinGen CA406056111
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57486
- Uncertain significance
- not provided; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (not provided; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)