G21V (p.Gly21Val) variant of MAPT (P10636)
G21V (p.Gly21Val) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontotemporal dementia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- rs781076528
- ClinGen CA8617508
- ClinVar RCV000821910
- ClinVar RCV004029086
- Uncertain significance
- Frontotemporal dementia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.09
- CADD 17.20
- PolyPhen-2 0.91
- SIFT 0.06
- ClinVar: Uncertain significance (Frontotemporal dementia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)