W71* (p.Trp71Ter) variant of ATP13A2 (Q9NQ11)
W71* (p.Trp71Ter) in ATP13A2 (Q9NQ11) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W71* (p.Trp71Ter) variant details
- p.Trp71Ter
- rs1468568465
- rs373607247
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10045
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.816
- CADD 36.00
- PolyPhen-2 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)