M154V (p.Met154Val) variant of ATP1A3 (P13637)
M154V (p.Met154Val) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
M154V (p.Met154Val) variant details
- p.Met154Val
- rs1135401821
- ClinGen CA406055012
- ClinVar RCV000496204
- ClinVar RCV005621958
- Likely pathogenic
- Intellectual disability; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sen
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- AlphaMissense 0.83
- MetaLR 0.76
- MetaSVM 0.67
- PolyPhen-2 0.41
- SIFT 0.00
- EVE 0.46
- ClinVar: Likely pathogenic (Intellectual disability; Cerebellar ataxia-areflexia-pes cavus-o)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)