S669L (p.Ser669Leu) variant of MAPT (P10636)
S669L (p.Ser669Leu) 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 population frequency data, published literature, and structural context.
S669L (p.Ser669Leu) variant details
- p.Ser669Leu
- rs63750425
- ClinGen CA225487
- NCI-TCGA Cosmic COSV5224
- cosmic curated COSV52241
- Pathogenic
- Supranuclear palsy, progressive, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Supranuclear palsy, progressive, 1)
- EBI: Pathogenic (in fatal respiratory hypoventilation)
- UniProt: Pathogenic (in fatal respiratory hypoventilation)
- Population evidence available
- Structural context available
- Cited in: An English kindred with a novel recessive tauopathy and respiratory failure. (PMID 14595660)
- Cited in: MAPT-Related Frontotemporal Dementia. (PMID 20301678)