R78Q (p.Arg78Gln) variant of ATP13A2 (Q9NQ11)
R78Q (p.Arg78Gln) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; Inborn gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- rs773087322
- ClinGen CA637722
- NCI-TCGA Cosmic COSV5870
- cosmic curated COSV58701
- Conflicting interpretations
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.0977
- REVEL 0.07
- CADD 8.61
- PolyPhen-2 0.01
- SIFT 0.70
- ClinVar: Conflicting classifications of pathogenicity (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- 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)