K95R (p.Lys95Arg) variant of ATP13A2 (Q9NQ11)
K95R (p.Lys95Arg) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K95R (p.Lys95Arg) variant details
- p.Lys95Arg
- rs2101118952
- ClinGen CA338264081
- ClinVar RCV001935175
- Ensembl rs2101118952
- Uncertain significance
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.04
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)