G620V (p.Gly620Val) variant of MAPT (P10636)
G620V (p.Gly620Val) 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 0.94 / 1. The record also includes published literature and structural context.
G620V (p.Gly620Val) variant details
- p.Gly620Val
- rs63751391
- ClinGen CA225451
- ClinVar RCV000084529
- ClinVar RCV002508760
- Pathogenic
- Supranuclear palsy, progressive, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Supranuclear palsy, progressive, 1)
- EBI: Pathogenic (in PSNP1)
- UniProt: Pathogenic (in PSNP1)
- Structural context available
- Cited in: A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy. (PMID 16157753)
- Cited in: Mutational analysis of the tau gene in progressive supranuclear palsy. (PMID 10534245)