P59L (p.Pro59Leu) variant of MAPT (P10636)
P59L (p.Pro59Leu) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- rs143138715
- ClinGen CA8617543
- cosmic curated COSV99290
- ClinVar RCV001521462
- Conflicting interpretations
- not provided; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.09
- CADD 21.60
- PolyPhen-2 0.35
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (not provided; Frontotemporal dementia)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)