I592T (p.Ile592Thr) variant of ATP1A1 (P05023)
I592T (p.Ile592Thr) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Inborn genetic diseases; Charcot-Marie-tooth disease, axonal, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I592T (p.Ile592Thr) variant details
- p.Ile592Thr
- rs1553192086
- ClinGen CA341771587
- ClinVar RCV000656715
- ClinVar RCV001855351
- Pathogenic/Likely pathogenic
- not provided; Inborn genetic diseases; Charcot-Marie-tooth disease, axonal, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.86
- CADD 28.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Inborn genetic diseases; Charcot-Marie-tooth disea)
- EBI: Pathogenic (in CMT2DD)
- UniProt: Pathogenic (in CMT2DD)
- Most common in the HGDP:SAN population (allele frequency 0.58)
- Structural context available
- Cited in: Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. (PMID 29499166)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)