G27R (p.Gly27Arg) variant of MAPT (P10636)
G27R (p.Gly27Arg) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- TOPMed rs1290341065
- gnomAD rs1290341065
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.14
- MetaLR 0.13
- MetaSVM -1.04
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available