K686I (p.Lys686Ile) variant of MAPT (P10636)
K686I (p.Lys686Ile) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
K686I (p.Lys686Ile) variant details
- p.Lys686Ile
- rs63751264
- ClinGen CA225492
- ClinVar RCV000015329
- ClinVar RCV000084552
- Pathogenic
- Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- AlphaMissense 0.82
- MetaLR 0.05
- MetaSVM -1.04
- PolyPhen-2 0.16
- SIFT 0.05
- EVE 0.27
- ClinVar: Pathogenic (Pick disease)
- EBI: Pathogenic (in PIDB)
- UniProt: Pathogenic (in PIDB)
- Structural context available
- Cited in: Pick's disease associated with the novel Tau gene mutation K369I. (PMID 11601501)
- Cited in: Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. (PMID 10604746)