A125G (p.Ala125Gly) variant of ATP13A2 (Q9NQ11)
A125G (p.Ala125Gly) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal recessive spastic paraplegia type 78; Kufor-R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
A125G (p.Ala125Gly) variant details
- p.Ala125Gly
- rs1050244144
- ClinGen CA18646294
- ClinVar RCV001940880
- ClinVar RCV002561408
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive spastic paraplegia type 78; Kufor-R
- Missense
- Variant Prioritization Score for Impact Estimate 0.044
- REVEL 0.03
- CADD 0.47
- PolyPhen-2 0.14
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)