G15A (p.Gly15Ala) variant of ATP13A2 (Q9NQ11)
G15A (p.Gly15Ala) 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; Inborn gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G15A (p.Gly15Ala) variant details
- p.Gly15Ala
- rs1287774416
- ClinGen CA338265601
- ClinVar RCV002030731
- ClinVar RCV006327400
- Uncertain significance
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.14
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)