R66H (p.Arg66His) variant of ATP13A2 (Q9NQ11)
R66H (p.Arg66His) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessive spastic parap. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R66H (p.Arg66His) variant details
- p.Arg66His
- rs367745335
- ClinGen CA637734
- cosmic curated COSV99045
- ClinVar RCV000431349
- Conflicting interpretations
- Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessive spastic parap
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.07
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)