R5H (p.Arg5His) variant of MAPT (P10636)
R5H (p.Arg5His) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- rs63750959
- ClinGen CA257191
- ClinVar RCV000015330
- ClinVar RCV004700240
- Conflicting interpretations
- not provided; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.60
- CADD 22.60
- PolyPhen-2 0.93
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (not provided; Frontotemporal dementia)
- EBI: Pathogenic (in FTD1)
- UniProt: Pathogenic (in FTD1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. (PMID 11921059)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)