D220V (p.Asp220Val) variant of ATP1A3 (P13637)
D220V (p.Asp220Val) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
D220V (p.Asp220Val) variant details
- p.Asp220Val
- rs2145978691
- ClinGen CA406054086
- ClinVar RCV003142317
- ClinVar RCV006473654
- Uncertain significance
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.52
- MetaLR 0.55
- MetaSVM -0.04
- PolyPhen-2 0.01
- SIFT 0.02
- EVE 0.24
- ClinVar: Uncertain significance (Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineura)
- EBI: Variant of uncertain significance (in AHC2)
- UniProt: Uncertain significance (in AHC2)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)