G27E (p.Gly27Glu) variant of MAPT (P10636)
G27E (p.Gly27Glu) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Frontotemporal dementia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- rs769331823
- ClinGen CA8617510
- ClinVar RCV001921514
- ClinVar RCV002560453
- Conflicting interpretations
- Inborn genetic diseases; Frontotemporal dementia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.05
- CADD 10.10
- PolyPhen-2 0.47
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Frontotemporal dementia; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)