L844P (p.Leu844Pro) variant of ATP1A1 (P05023)
L844P (p.Leu844Pro) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability; Charcot-Marie-tooth disease, axonal, type 2DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L844P (p.Leu844Pro) variant details
- p.Leu844Pro
- rs1653241392
- ClinGen CA341774275
- NCI-TCGA Cosmic COSV5519
- ClinVar RCV001331357
- Likely pathogenic
- Intellectual disability; Charcot-Marie-tooth disease, axonal, type 2DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Likely pathogenic (Intellectual disability; Charcot-Marie-tooth disease, axonal, ty)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)