R19C (p.Arg19Cys) variant of ATP1A3 (P13637)
R19C (p.Arg19Cys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs782229302
- ClinGen CA9467977
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57487
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 28.70
- PolyPhen-2 0.28
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound… (PMID 31616254)
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)