Y50H (p.Tyr50His) variant of ATP13A2 (Q9NQ11)
Y50H (p.Tyr50His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Y50H (p.Tyr50His) variant details
- p.Tyr50His
- rs2101123287
- ClinGen CA338264918
- ClinVar RCV001983568
- Ensembl rs2101123287
- Uncertain significance
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.16
- CADD 23.70
- PolyPhen-2 0.15
- SIFT 0.02
- ClinVar: Uncertain significance (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)