P618A (p.Pro618Ala) variant of MAPT (P10636)
P618A (p.Pro618Ala) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Supranuclear palsy, progressive, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
P618A (p.Pro618Ala) variant details
- p.Pro618Ala
- rs63751438
- ClinGen CA399983370
- ClinVar RCV004017193
- Likely pathogenic
- Supranuclear palsy, progressive, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Supranuclear palsy, progressive, 1)
- EBI: Likely pathogenic (in FTD1 and CBD)
- UniProt: Likely pathogenic (in FTD1 and CBD)
- Structural context available
- Cited in: MAPT-Related Frontotemporal Dementia. (PMID 20301678)