S38G (p.Ser38Gly) variant of ATP13A2 (Q9NQ11)
S38G (p.Ser38Gly) 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; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S38G (p.Ser38Gly) variant details
- p.Ser38Gly
- rs780883238
- ClinGen CA637754
- ClinVar RCV001770694
- ClinVar RCV002540278
- Uncertain significance
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.08
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.18
- 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 9e-07)
- 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)