G28D (p.Gly28Asp) variant of MAPT (P10636)
G28D (p.Gly28Asp) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- gnomAD 17-45962420-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.07
- CADD 6.85
- PolyPhen-2 0.68
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available