T20M (p.Thr20Met) variant of ATP13A2 (Q9NQ11)
T20M (p.Thr20Met) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T20M (p.Thr20Met) variant details
- p.Thr20Met
- rs773699589
- ClinGen CA637786
- NCI-TCGA Cosmic COSV5869
- cosmic curated COSV58697
- Uncertain significance
- Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessive spastic parap
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.13
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)