G49V (p.Gly49Val) variant of ATP13A2 (Q9NQ11)
G49V (p.Gly49Val) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G49V (p.Gly49Val) variant details
- p.Gly49Val
- rs372254666
- ClinGen CA637745
- ClinVar RCV001048775
- ClinVar RCV001509026
- Uncertain significance
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.11
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.26
- ClinVar: Uncertain significance (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Variant of uncertain significance (in dbSNP:rs56379718)
- UniProt: Uncertain significance (in dbSNP:rs56379718)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)