M36I (p.Met36Ile) variant of ATP1A3 (P13637)
M36I (p.Met36Ile) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
M36I (p.Met36Ile) variant details
- p.Met36Ile
- rs1599725994
- ClinGen CA406057431
- ClinVar RCV000990224
- NCI-TCGA TCGA novel
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)