G60V (p.Gly60Val) variant of MAPT (P10636)
G60V (p.Gly60Val) in MAPT (P10636) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Frontotemporal dementia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- 1000Genomes rs552538809
- ExAC rs552538809
- gnomAD rs552538809
- Uncertain significance
- Frontotemporal dementia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.07
- MetaLR 0.13
- MetaSVM -1.05
- CADD 22.80
- SIFT 0.45
- ClinVar: Uncertain significance (Frontotemporal dementia; not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available