R5L (p.Arg5Leu) variant of MAPT (P10636)
R5L (p.Arg5Leu) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Supranuclear palsy, progressive, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- rs63750959
- ClinGen CA225379
- ClinVar RCV000084498
- ClinVar RCV002508758
- Pathogenic
- Supranuclear palsy, progressive, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.26
- MetaLR 0.19
- MetaSVM -0.78
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Supranuclear palsy, progressive, 1)
- EBI: Pathogenic (in PSNP1)
- UniProt: Pathogenic (in PSNP1)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. (PMID 12325083)
- Cited in: Mutational analysis of the tau gene in progressive supranuclear palsy. (PMID 10534245)