T771I (p.Thr771Ile) variant of ATP1A3 (P13637)
T771I (p.Thr771Ile) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.77 / 1. The record also includes published literature and structural context.
T771I (p.Thr771Ile) variant details
- p.Thr771Ile
- rs557939077
- ClinGen CA308586633
- ClinVar RCV001254116
- Ensembl rs557939077
- Pathogenic
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.97
- MetaLR 0.81
- MetaSVM 0.80
- PolyPhen-2 0.53
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineura)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)