W71S (p.Trp71Ser) variant of ATP13A2 (Q9NQ11)
W71S (p.Trp71Ser) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
W71S (p.Trp71Ser) variant details
- p.Trp71Ser
- rs373607247
- ClinGen CA637731
- ClinVar RCV001350251
- ClinVar RCV005432682
- Uncertain significance
- not specified; Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.23
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Autosomal recessive spastic paraplegia type 78; K)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)