A132T (p.Ala132Thr) variant of ATP13A2 (Q9NQ11)
A132T (p.Ala132Thr) 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; Kufor-Rakeb syndrome; Autosomal recessive spastic parap. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A132T (p.Ala132Thr) variant details
- p.Ala132Thr
- rs200934541
- ClinGen CA637654
- ClinVar RCV001046328
- ClinVar RCV002372795
- Uncertain significance
- Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessive spastic parap
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.05
- CADD 7.20
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.012)
- 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)