G28S (p.Gly28Ser) variant of MAPT (P10636)
G28S (p.Gly28Ser) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- 1000Genomes rs186536533
- ExAC rs186536533
- gnomAD rs186536533
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.04
- CADD 15.00
- PolyPhen-2 0.97
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available