T20P (p.Thr20Pro) variant of ATP13A2 (Q9NQ11)
T20P (p.Thr20Pro) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome. The record also includes published literature and structural context.
T20P (p.Thr20Pro) variant details
- p.Thr20Pro
- rs2524479587
- ClinGen CA338265522
- ClinVar RCV002652990
- Uncertain significance
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome
- Missense
- ClinVar: Uncertain significance (Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. (PMID 23279440)